Klinische FragestellungEpilepsie, erbliche Syndrome, Differentialdiagnose

NGS +

[[Sanger]]

Mindestens die Hälfte der bekannten Epilepsie-Formen haben sehr wahrscheinlich eine monogene genetische Grundlage haben. Dieser Zusammenhang kann aus primären genetischen Ursachen resultieren oder sekundär auf gut definierten strukturellen oder metabolischen Störungen beruhen, von denen die meisten Erkrankungen auch definierte genetische Ursachen haben. Das Panel umfasst Gene, die in mutierter Form Epilepsien oder Syndrome mit Epilepsie als Kernsymptom(e) verursachen. Darüber hinaus werden Neuroentwicklung-assoziierte Gene abgedeckt, die sowohl mit Hirnentwicklung-bedingten Formationen wie auch mit Epilepsie assoziiert sind. Weiterhin sind Gene enthalten, die sowohl mit körperlichen oder anderen systemischen Störungen wie auch mit Epilepsie oder Krampfanfällen assoziiert sind. Schließlich ist eine Reihe von Genen enthalten, die höchstwahrscheinlich mit Epilepsie assoziiert sind. Wiewohl mit diesem umfangreichen panel die meisten monogenen Ursachen von erblichen Epilepsie Syndromen abgedeckt sind, stellt ein negatives Ergebnis doch keinen sicheren Ausschluss auch von sehr selten vorkommenden Mutationen in weiteren Genen dar.

Referenz: https://pubmed.ncbi.nlm.nih.gov/28007376/

• Allelic: Melnick-Needles syndrome (FLNA)
• Allelic: Adenocarcinoma of lung, somatic (BRAF)
• Allelic: Alcohol dependence, susceptibility to (GABRA2)
• Allelic: Alpha-thalassemia myelodysplasia syndrome, somatic (ATRX)
• Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
• Allelic: Atrial fibrillation, familial, 13 (SCN1B)
• Allelic: Autism susceptibility 15 (CNTNAP2)
• Allelic: Autism susceptibility, XL 3 (MECP2)
• Allelic: Bjornstad syndrome (BCS1L)
• Allelic: Bladder cancer, somatic (HRAS, KRAS)
• Allelic: Breast cancer, somatic (KRAS)
• Allelic: Brugada syndrome 5 (SCN1B)
• Allelic: CAPOS syndrome (ATP1A3)
• Allelic: CHILD syndrome (NSDHL)
• Allelic: COACH syndrome 2 (CC2D2A)
• Allelic: Capillary malformations, congenital, 1, somatic, mosaic (GNAQ)
• Allelic: Cardiac conduction defect, nonspecific (SCN1B)
• Allelic: Cardiac valvular dysplasia, XL (FLNA)
• Allelic: Cardiofaciocutaneous syndrome (BRAF)
• Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cataract 21, multiple types (MAF)
• Allelic: Charcot-Marie-Tooth disease, AR intermediate, B (KARS)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS)
• Allelic: Charcot-Marie-Tooth disease, type 2B2 (PNKP)
• Allelic: Charcot-Marie-Tooth disease, type 4K (SURF1)
• Allelic: Chilblain lupus (TREX1)
• Allelic: Chilblain lupus 2 (SAMHD1)
• Allelic: Cognitive impairment with/-out cerebellar ataxia (SCN8A)
• Allelic: Colorectal cancer, somatic (BRAF)
• Allelic: Congenital disorder of glycosylation, type 1aa (NUS1)
• Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
• Allelic: Congenital short bowel syndrome (FLNA)
• Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
• Allelic: Cutis laxa, AR, type IIA (ATP6V0A2)
• Allelic: Deafness, AD 1, with/-out thrombocytopenia (DIAPH1)
• Allelic: Deafness, AD 65 (TBC1D24)
• Allelic: Deafness, AR 86 (TBC1D24)
• Allelic: Deafness, AR 89 (KARS)
• Allelic: Deafness, AR 94 (NARS2)
• Allelic: Diabetes mellitus, transient neonatal 3 (KCNJ11)
• Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
• Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
• Allelic: Dystonia 4, torsion, AD (TUBB4A)
• Allelic: Dystonia 9 (SLC2A1)
• Allelic: Dystonia-12 (ATP1A3)
• Allelic: Enlarged vestibular aqueduct, digenic (KCNJ10)
• Allelic: Episodic ataxia, type 2 (CACNA1A)
• Allelic: Esophageal squamous cell carcinoma, somatic (WWOX)
• Allelic: FG syndrome 2 (FLNA)
• Allelic: FG syndrome 4 (CASK)
• Allelic: Farber lipogranulomatosis (ASAH1)
• Allelic: Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Allelic: Frontometaphyseal dysplasia 1 (FLNA)
• Allelic: GM1-gangliosidosis, type II, III (GLB1)
• Allelic: GRACILE syndrome (BCS1L)
• Allelic: Gastric cancer, somatic (KRAS)
• Allelic: Gaucher disease, perinatal lethal (GBA)
• Allelic: Gaucher disease, type I (GBA)
• Allelic: Glaucoma, primary closed-angle (COL18A1)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1, -2)
• Allelic: Hydranencephaly with abnormal genitalia (ARX)
• Allelic: Hyperphenylalaninemia, non-PKU mild (PAH)
• Allelic: Hypomagnesemia 6, renal (CNNM2)
• Allelic: Immunodeficiency 33 (IKBKG)
• Allelic: Incontinentia pigmenti (IKBKG)
• Allelic: Inosine triphosphatase deficiency (ITPA)
• Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
• Allelic: Language delay + ADHD/cognitive impairment with/-out cardiac arrhythmia (GNB5)
• Allelic: Leukemia, acute myeloid, somatic (KRAS)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Lipodystrophy, congenital generalized, type 2 (BSCL2)
• Allelic: Lung cancer, somatic (KRAS)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Macular dystrophy with central cone involvement (MFSD8)
• Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
• Allelic: Meckel syndrome 6 (CC2D2A)
• Allelic: Melanoma, malignant, somatic (BRAF)
• Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
• Allelic: Mental retardation, XL 29 + others (ARX)
• Allelic: Mental retardation, with/-out nystagmus (CASK)
• Allelic: Microhydranencephaly (NDE1)
• Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
• Allelic: Mitchell syndrome (ACOX1)
• Allelic: Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
• Allelic: Mucopolysaccharidosis type IVB [Morquio] (GLB1)
• Allelic: Multiple system atrophy, susceptibility to (COQ2)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (FKTN)
• Allelic: Neu-Laxova syndrome 1 (PHGDH)
• Allelic: Neural tube defects, susceptibility to (MTHFR)
• Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
• Allelic: Neuropathy, hereditary sensory, type IIC (KIF1A)
• Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
• Allelic: Nicotine addiction, susceptibility to (CHRNA4)
• Allelic: Nicotine dependence, protection against (GABBR2)
• Allelic: Nicotine dependence, susceptibility to (GABBR2)
• Allelic: Nonsmall cell lung cancer, somatic (BRAF)
• Allelic: Noonan syndrome 3 (KRAS)
• Allelic: Noonan syndrome 7 (BRAF)
• Allelic: Obesity, hyperphagia + developmental delay (NTRK2)
• Allelic: Oculoectodermal syndrome, somatic (KRAS)
• Allelic: Optic atrophy 5 (DNM1L)
• Allelic: Otopalatodigital syndrome, type I + II (FLNA)
• Allelic: Pancreatic carcinoma, somatic (KRAS)
• Allelic: Parkinson disease 13 (HTRA2)
• Allelic: Parkinson disease 20, early-onset (SYNJ1)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Paroxysmal nocturnal hemoglobinuria (PIGT)
• Allelic: Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)
• Allelic: Partington syndrome (ARX)
• Allelic: Polycystic liver disease 3 with or without kidney cysts (ALG8)
• Allelic: Proud syndrome (ARX)
• Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Retinitis pigmentosa 59 (DHDDS)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Schizophrenia, susceptibility to (MTHFR)
• Allelic: Schizophrenia, susceptibility to, 17 (NRXN1)
• Allelic: Silver spastic paraplegia syndrome (BSCL2)
• Allelic: Singleton-Merten syndrome 1 (IFIH1)
• Allelic: Sinoatrial node dysfunction + deafness (CACNA1D)
• Allelic: Spastic paraplegia 30, AD, AR (KIF1A)
• Allelic: Spastic paraplegia 77, AR (FARS2)
• Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Allelic: Spinocerebellar ataxia 42 (CACNA1G)
• Allelic: Spinocerebellar ataxia 6 (CACNA1A)
• Allelic: Spinocerebellar ataxia, AR 7 (TPP1)
• Allelic: Spitz nevus or nevus spilus, somatic (HRAS)
• Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
• Allelic: Terminal osseous dysplasia (FLNA)
• Allelic: Thromboembolism, susceptibility to (MTHFR)
• Allelic: Thyroid carcinoma, follicular, somatic (HRAS)
• Allelic: Vascular disease, susceptibility to (MTHFR)
• 3-methylglutaconic aciduria, type VIII (HTRA2)
• 5-fluorouracil toxicity (DPYD)
• Adenylosuccinase deficiency (ADSL)
• Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
• Aicardi-Goutieres syndrome 2 (RNASEH2B)
• Aicardi-Goutieres syndrome 3 (RNASEH2C)
• Aicardi-Goutieres syndrome 4 (RNASEH2A)
• Aicardi-Goutieres syndrome 5 (SAMHD1)
• Aicardi-Goutieres syndrome 6 (ADAR)
• Aicardi-Goutieres syndrome 7 (IFIH1)
• Alexander disease (GFAP)
• Alkuraya-Kucinskas syndrome (KIAA1109)
• Allan-Herndon-Dudley syndrome (SLC16A2)
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• Alternating hemiplegia of childhood 1 (ATP1A2)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• Angelman syndrome (UBE3A)
• Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Argininemia (ARG1)
• Arteriovenous malformation of the brain, somatic (KRAS)
• Arthrogryposis, cleft palate, craniosynostosis, impaired intell. development (PPP3CA)
• Ayme-Gripp syndrome (MAF)
• Band heterotopia (EML1)
• Biotinidase deficiency (BTD)
• Brain small vessel disease 2 (COL4A2)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• CK syndrome (NSDHL)
• Canavan disease (ASPA)
• Cardiofaciocutaneous syndrome 3 (MAP2K1)
• Cardiofaciocutaneous syndrome 4 (MAP2K2)
• Cerebellar atrophy with seizures + variable developmental delay (CACNA2D2)
• Cerebellar atrophy, developmental delay + seizures (KCNMA1)
• Cerebral creatine deficiency syndrome 1 (SLC6A8)
• Cerebral creatine deficiency syndrome 2 (GAMT)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 2 (TPP1)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Chromosome 5q14.3 deletion syndrome (MEF2C)
• Coenzyme Q10 deficiency, primary, 1 (COQ2)
• Coenzyme Q10 deficiency, primary, 5 (COQ9)
• Coenzyme Q10 deficiency, primary, 7 (COQ4)
• Coffin-Siris syndrome 1 (ARID1B)
• Coffin-Siris syndrome 8 (SMARCC2)
• Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)
• Combined SAP deficiency (PSAP)
• Combined oxidative phosphorylation deficiency 11 (RMND1)
• Combined oxidative phosphorylation deficiency 12 (EARS2)
• Combined oxidative phosphorylation deficiency 14 (FARS2)
• Combined oxidative phosphorylation deficiency 24 (NARS2)
• Congenital disorder of deglycosylation (NGLY1)
• Congenital disorder of glycosylation with defective fucosylation 1 (FUT8)
• Congenital disorder of glycosylation, type 1bb (DHDDS)
• Congenital disorder of glycosylation, type IIb (MOGS)
• Congenital disorder of glycosylation, type IIe (COG7)
• Congenital disorder of glycosylation, type IIm (SLC35A2)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Congenital disorder of glycosylation, type Ic (ALG6)
• Congenital disorder of glycosylation, type Id (ALG3)
• Congenital disorder of glycosylation, type Ie (DPM1)
• Congenital disorder of glycosylation, type If (MPDU1)
• Congenital disorder of glycosylation, type Ih (ALG8)
• Congenital disorder of glycosylation, type Ij (DPAGT1)
• Congenital disorder of glycosylation, type Ik (ALG1)
• Congenital disorder of glycosylation, type Il (ALG9)
• Congenital disorder of glycosylation, type In (RFT1)
• Congenital disorder of glycosylation, type Ip (ALG11)
• Congenital disorder of glycosylation, type Is (ALG13)
• Congenital hypotonia, epilepsy, developmental delay + digital anomalies (ATN1_CAG)
• Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• Cornelia de Lange syndrome 2 (SMC1A)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
• Cortical dysplasia, complex, with other brain malformations 3 (KIF2A)
• Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
• Cortical dysplasia, complex, with other brain malformations 5 (TUBB2A)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Cortical dysplasia, complex, with other brain malformations 9 (CTNNA2)
• Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
• Costello syndrome (HRAS)
• D-2-hydroxyglutaric aciduria (D2HGDH)
• D-bifunctional protein deficiency (HSD17B4)
• DOORS syndrome (TBC1D24)
• Dentatorubral-pallidoluysian atrophy (ATN1-CAG)
• Developmental + epileptic encephalopathy 1 (ARX)
• Developmental + epileptic encephalopathy 12 (PLCB1)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 14 (KCNT1)
• Developmental + epileptic encephalopathy 16 (TBC1D24)
• Developmental + epileptic encephalopathy 17 (GNAO1)
• Developmental + epileptic encephalopathy 18 (SZT2)
• Developmental + epileptic encephalopathy 19 (GABRA1)
• Developmental + epileptic encephalopathy 2 (CDKL5)
• Developmental + epileptic encephalopathy 23 (DOCK7)
• Developmental + epileptic encephalopathy 24 (HCN1)
• Developmental + epileptic encephalopathy 25, with amelogenesis imperfecta (SLC13A5)
• Developmental + epileptic encephalopathy 26 (KCNB1)
• Developmental + epileptic encephalopathy 27 (GRIN2B)
• Developmental + epileptic encephalopathy 28 (WWOX)
• Developmental + epileptic encephalopathy 29 (AARS)
• Developmental + epileptic encephalopathy 3 (SLC25A22)
• Developmental + epileptic encephalopathy 31 (DNM1)
• Developmental + epileptic encephalopathy 32 (KCNA2)
• Developmental + epileptic encephalopathy 33 (EEF1A2)
• Developmental + epileptic encephalopathy 34 (SLC12A5)
• Developmental + epileptic encephalopathy 35 (ITPA)
• Developmental + epileptic encephalopathy 36 (ALG13)
• Developmental + epileptic encephalopathy 37 (FRRS1L)
• Developmental + epileptic encephalopathy 38 (ARV1)
• Developmental + epileptic encephalopathy 39 (SLC25A12)
• Developmental + epileptic encephalopathy 41 (SLC1A2)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 43 (GABRB3)
• Developmental + epileptic encephalopathy 44 (UBA5)
• Developmental + epileptic encephalopathy 46 (GRIN2D)
• Developmental + epileptic encephalopathy 47 (FGF12)
• Developmental + epileptic encephalopathy 48 (AP3B2)
• Developmental + epileptic encephalopathy 49 (DENND5A)
• Developmental + epileptic encephalopathy 5 (SPTAN1)
• Developmental + epileptic encephalopathy 50 (CAD)
• Developmental + epileptic encephalopathy 51 (MDH2)
• Developmental + epileptic encephalopathy 52 (SCN1B)
• Developmental + epileptic encephalopathy 53 (SYNJ1)
• Developmental + epileptic encephalopathy 54 (HNRNPU)
• Developmental + epileptic encephalopathy 56 (YWHAG)
• Developmental + epileptic encephalopathy 57 (KCNT2)
• Developmental + epileptic encephalopathy 58 (NTRK2)
• Developmental + epileptic encephalopathy 59 (GABBR2)
• Developmental + epileptic encephalopathy 60 (CNPY3)
• Developmental + epileptic encephalopathy 64 (RHOBTB2)
• Developmental + epileptic encephalopathy 66 (PACS2)
• Developmental + epileptic encephalopathy 67 (CUX2)
• Developmental + epileptic encephalopathy 68 (TRAK1)
• Developmental + epileptic encephalopathy 69 (CACNA1E)
• Developmental + epileptic encephalopathy 7 (KCNQ2)
• Developmental + epileptic encephalopathy 70 (PHACTR1)
• Developmental + epileptic encephalopathy 74 (GABRG2)
• Developmental + epileptic encephalopathy 75 (PARS2)
• Developmental + epileptic encephalopathy 76 (ACTL6B)
• Developmental + epileptic encephalopathy 77 PIGQ)
• Developmental + epileptic encephalopathy 78 (GABRA2)
• Developmental + epileptic encephalopathy 79 (GABRA5)
• Developmental + epileptic encephalopathy 8 (ARHGEF9)
• Developmental + epileptic encephalopathy 80 (PIGB)
• Developmental + epileptic encephalopathy 82 (GOT2)
• Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Developmental + epileptic encephalopathy 9 (PCDH19)
• Developmental + epileptic encephalopathy 92 (GABRB2)
• Developmental delay + seizures with/-out movement abnormalities (DHDDS)
• Developmental disease gene with early generalized epilepsy phenotypes (NBEA)
• Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
• Diencephalic-mesencephalic junction dysplasia syndrome 1 (PCDH12)
• Dihydropyrimidine dehydrogenase deficiency (DPYD)
• Dravet syndrome (SCN1A)
• Ectodermal dysplasia + immunodeficiency 1 (IKBKG)
• Encephalopathy due to defective mitochondrial + peroxisomal fission 2 (MFF)
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
• Encephalopathy, neonatal severe (MECP2)
• Encephalopathy, progressive, early-onset, with brain atrophy + thin corpus callosum (TBCD)
• Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
• Epilepsy nocturnal frontal lobe, 5 (KCNT1)
• Epilepsy, XL, with variable learning disabilities + behavior disorders (SYN1)
• Epilepsy, childhood absence, susceptibility to, 2 (GABRG2)
• Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
• Epilepsy, childhood absence, susceptibility to, 5 (GABRB3)
• Epilepsy, early-onset, vitamin B6-dependent (PLPBP)
• Epilepsy, familial focal, with variable foci 1 (DEPDC5)
• Epilepsy, familial focal, with variable foci 2 (NPRL2)
• Epilepsy, familial focal, with variable foci 3 (NPRL3)
• Epilepsy, familial focal, with variable foci 4 (SCN3A)
• Epilepsy, familial temporal lobe, 1 (LGI1)
• Epilepsy, familial temporal lobe, 5 (CPA6)
• Epilepsy, familial temporal lobe, 7 (RELN)
• Epilepsy, focal, with speech disorder + with/-out mental retardation (GRIN2A)
• Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
• Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
• Epilepsy, generalized, with febrile seizures plus, type 3 (GABRG2)
• Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to (GABRD)
• Epilepsy, hearing loss + mental retardation syndrome (SPATA5)
• Epilepsy, idiopathic generalized, 10 (GABRD)
• Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Epilepsy, idiopathic generalized, susceptibility to, 14 (SLC12A5)
• Epilepsy, idiopathic generalized, susceptibility to, 15 (RORB)
• Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
• Epilepsy, juvenile myoclonic, susceptibility to (GABRD)
• Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
• Epilepsy, nocturnal frontal lobe, 1 (CHRNA4)
• Epilepsy, nocturnal frontal lobe, 3 (CHRNB2)
• Epilepsy, nocturnal frontal lobe, 4 (CHRNA2)
• Epilepsy, nocturnal frontal lobe, 5 (KCNT1)
• Epilepsy, progressive myoclonic 1A, Unverricht + Lundborg (CSTB)
• Epilepsy, progressive myoclonic 1B (PRICKL1)
• Epilepsy, progressive myoclonic 2A, Lafora (EPM2A)
• Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
• Epilepsy, progressive myoclonic 3, with/-out intracellular inclusions (KCTD7)
• Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
• Epilepsy, progressive myoclonic 6 (GOSR2)
• Epilepsy, progressive myoclonic 7 (KCNC1)
• Epilepsy, pyridoxine-dependent (ALDH7A1)
• Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Epileptic encephalopathy (KCTD3)
• Epileptic encephalopathy, childhood-onset (CHD2)
• Epileptic encephalopathy, early infantile, 11 (SCN2A)
• Epileptic encephalopathy, early infantile, 14 (KCNT1)
• Epileptic encephalopathy, early infantile, 4 (STXBP1)
• Epileptic encephalopathy, early infantile, 52 (SCN1B)
• Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
• Epileptic encephalopathy, early infantile, 62 (SCN3A)
• Epileptic encephalopathy, early infantile, 74 (GABRG2)
• Epileptic encephalopathy, early infantile, 9 (GABRG2)
• Epileptic encephalopathy, infantile or early childhood, 1 (PPP3CA)
• Episodic ataxia, type 9 (SCN2A)
• Episodic kinesigenic dyskinesia 1 (PRRT2)
• Ethylmalonic encephalopathy (ETHE1)
• Facial dysmorphism, hypertrichosis, epilepsy, intell./devel. delay, gingival overgrowth s. (KCNK4)
• Febrile seizures [plus] (HCN2)
• Febrile seizures, familial, 11 (CPA6)
• Febrile seizures, familial, 3A (SCN1A)
• Febrile seizures, familial, 8 (GABRG2)
• Focal cortical dysplasia, type II, somatic (MTOR)
• Focal cortical dysplasia, type II, somatic (TSC1)
• Focal cortical dysplasia, type II, somatic (TSC2)
• Fucosidosis (FUCA1)
• GABA-transaminase deficiency (ABAT)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• GM1-gangliosidosis, type I (GLB1)
• GM2-gangliosidosis, AB variant (GM2A)
• GM2-gangliosidosis, several forms (HEXA)
• Galloway-Mowat syndrome 1 (WDR73)
• Gaucher disease, atypical (PSAP)
• Gaucher disease, type II , III, IIIC (GBA)
• Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
• Generalized epilepsy with febrile seizures plus, type 9 (STX1B)
• Gillessen-Kaesbach-Nishimura syndrome (ALG9)
• Glutamine deficiency, congenital (GLUL(
• Glycine encephalopathy (AMT)
• Glycine encephalopathy (GLDC)
• Glycosylphosphatidylinositol biosynthesis defect 11 (PIGW)
• Glycosylphosphatidylinositol biosynthesis defect 15 (GPAA1)
• Glycosylphosphatidylinositol biosynthesis defect 17 (PIGH)
• HMG-CoA lyase deficiency (HMGCL)
• Heterotopia, periventricular, 1 (FLNA)
• Hex A pseudodeficiency (HEXA)
• Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
• Homocystinuria due to MTHFR deficiency (MTHFR)
• Homocystinuria, cblD type, variant 1 (MMADHC)
• Hyperglycinemia, lactic acidosis + seizures (LIAS)
• Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
• Hyperinsulinism-hyperammonemia syndrome (GLUD1)
• Hyperphenylalaninemia, BH4-deficient, A (PTS)
• Hyperphosphatasia with mental retardation syndrome 2 (PIGN, PIGO)
• Hypomagnesemia 1, intestinal (TRPM6)
• Hypomagnesemia, seizures + mental retardation (CNNM2)
• Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
• Hypophosphatasia, adult (ALPL)
• Hypophosphatasia, childhood (ALPL)
• Hypophosphatasia, infantile (ALPL)
• Hypotonia, hypoventilation, impaired intell. devel., dysautonomia, epilepsy, eye abnorm. (P4HTM)
• Hypotonia, infantile, with psychomotor retardation + characteristic facies 2 (UNC80)
• Hypotonia, infantile, with psychomotor retardation + characteristic facies 3 (TBCK)
• Intellectual developmental disorder 60 with seizures (AP2M1)
• Intellectual developmental disorder with cardiac arrhythmia (GNB5)
• Intellectual developmental disorder with dysmorphic facies + behavioral abnormalities (FBXO11)
• Intellectual developmental disorder with macrocephaly, seizures + speech delay (PAK1)
• Intellectual developmental disorder with/-out epilepsy or cerebellar ataxia (RORA)
• Intellectual developmental disorder, XL, syndrome, Snijders Blok type (DDX3X)
• Intellectual developmental disorder, dysmorphic facies, seizures, distal limb anomalies (OTUD6B)
• Jaberi-Elahi syndrome (GTPBP2)
• Joubert syndrome 9 (CC2D2A)
• KINSSHIP s.: horseshoe KIdney, Nievergelt/Savarirayan, Seizure, Hypertrich., Intell., Pulmon. (AFF3)
• Kanzaki disease (NAGA)
• Kleefstra syndrome 1 (EHMT1)
• Knobloch syndrome, type 1 (COL18A1)
• Kohlschutter-Tonz syndrome (ROGDI)
• Krabbe disease (GALC)
• Krabbe disease, atypical (PSAP)
• LEOPARD syndrome 3 (BRAF)
• Lacticacidemia due to PDX1 deficiency (PDHX)
• Leukodystrophy, hypomyelinating, 12 (VPS11)
• Leukodystrophy, hypomyelinating, 14 (UFM1)
• Leukodystrophy, hypomyelinating, 18 (DEGS1)
• Leukodystrophy, hypomyelinating, 3 (AIMP1)
• Leukodystrophy, hypomyelinating, 6 (TUBB4A)
• Leukoencephalopathy with vanishing white matter (EIF2B1, -2, -3,-4, -5)
• Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
• Liang-Wang syndrome (KCNMA1)
• Lissencephaly 1 (PAFAH1B1)
• Lissencephaly 2 [Norman-Roberts type] (RELN)
• Lissencephaly 3 (TUBA1A)
• Lissencephaly 4 [with microcephaly] (NDE1)
• Lissencephaly 9 with complex brainstem malformation (MACF1)
• Lissencephaly, XL (DCX)
• Lissencephaly, XL 2 (ARX)
• Lujan-Fryns syndrome (MED12)
• MEHMO syndrome (EIF2S3)
• Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
• Maple syrup urine disease, type II (DBT)
• Maple syrup urine disease, type Ia (BCKDHA)
• Maple syrup urine disease, type Ib (BCKDHB)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
• Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
• Megalencephalic leukoencephalopathy, subcort. cysts 2B, remitting, with/-out ment. retard. (HEPACAM)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
• Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menkes disease (ATP7A)
• Mental retardation + microcephaly with pontine + cerebellar hypoplasia (CASK)
• Mental retardation, AD 1 (MBD5)
• Mental retardation, AD 13 (DYNC1H1)
• Mental retardation, AD 22 (ZBTB18)
• Mental retardation, AD 29 (SETBP1)
• Mental retardation, AD 31 (PURA)
• Mental retardation, AD 38 (EEF1A2)
• Mental retardation, AD 41 (TBL1XR1)
• Mental retardation, AD 42 (GNB1)
• Mental retardation, AD 45 (CIC)
• Mental retardation, AD 46 (KCNQ5)
• Mental retardation, AD 47 (STAG1)
• Mental retardation, AD 5 (SYNGAP1)
• Mental retardation, AD 55, with seizures (NUS1)
• Mental retardation, AD 56 (CLTC)
• Mental retardation, AD 6 (GRIN2B)
• Mental retardation, AD 7 (DYRK1A)
• Mental retardation, AR 53 (PIGG)
• Mental retardation, AR 57 (MBOAT7)
• Mental retardation, AR 67 (EIF3F)
• Mental retardation, XL 1/78 (IQSEC2)
• Mental retardation, XL 3 [methylmalonic acidemia and homocysteinemia, cblX type] (HCFC1)
• Mental retardation, XL 98 (NEXMIF)
• Mental retardation, XL, Snyder-Robinson type (SMS)
• Mental retardation, XL, syndromic 13 (MECP2)
• Mental retardation, XL, syndromic 15, Cabezas type (CUL4B)
• Mental retardation, XL, syndromic, Bain type (HNRNPH2)
• Mental retardation, XL, syndromic, Christianson type (SLC9A6)
• Mental retardation, XL, syndromic, Houge type (CNKSR2)
• Mental retardation, XL, syndromic, Lubs type (MECP2)
• Mental retardation, XL, syndromic, Nascimento-type (UBE2A)
• Mental retardation, XL, with cerebellar hypoplasia + distinctive facial appearance (OPHN1)
• Mental retardation, stereotypic movements, epilepsy, and/or cerebral malform. (MEF2C)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Metabolic encephalomyopathic crises, recurrent, rhabdomyolysis, card. arrhythm., neurodeg. (TANGO2)
• Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
• Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
• Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
• Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
• Microcephaly, progressive, seizures + cerebral + cerebellar atrophy (QARS)
• Microcephaly, seizures developmental delay (PNKP)
• Microcephaly, short stature + polymicrogyria with seizures (RTTN)
• Microcephaly-capillary malformation syndrome (STAMBP)
• Migraine, familial basilar (ATP1A2)
• Migraine, familial hemiplegic, 1 (CACNA1A)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Migraine, familial hemiplegic, 2 (ATP1A2)
• Migraine, familial hemiplegic, 3 (SCN1A)
• Mitochondrial DNA depletion s. 5; encephalomyopathic with/-out methylmalonic aciduria (SUCLA2)
• Mitochondrial DNA depletion syndrome 13 [encephalomyopathic type] (FBXL4)
• Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
• Mitochondrial DNA depletion syndrome 4B (MNGIE type] (POLG)
• Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)
• Mitochondrial complex I deficiency, nuclear type 10 (NDUFAF2)
• Mitochondrial complex I deficiency, nuclear type 12 (NDUFA1)
• Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5)
• Mitochondrial complex I deficiency, nuclear type 2 (NDUFS8)
• Mitochondrial complex I deficiency, nuclear type 22 (NDUFA10)
• Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1)
• Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
• Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
• Mitochondrial complex IV deficiency, nuclear type 12 (PET100)
• Molybdenum cofactor deficiency A (MOCS1)
• Molybdenum cofactor deficiency B (MOCS2)
• Molybdenum cofactor deficiency C (GPHN)
• Mowat-Wilson syndrome (ZEB2)
• Mucopolysaccharidosis type IIIA [Sanfilippo A] (SGSH)
• Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
• Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
• Multiple congenital anomalies-hypotonia-seizures syndrome 3 (PIGT)
• Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (BOLA3)
• Multiple respiratory chain complex deficiencies (KARS)
• Muscular dystrophy-dystroglycanopathy (congen. with brain + eye anomalies), type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy (congen. with brain + eye anomalies), type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy (congen. with brain + eye anomalies), type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy (congen. with ment. retard.), type B, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy (congen. with ment. retard.), type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy (congen. without ment. retard.), type B, 4 (FKTN)
• Myasthenic syndrome, congenital, 13, with tubular aggregate (DPAGT1)
• Myasthenic syndrome, congenital, 18 (SNAP25)
• Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
• Myoclonic epilepsy, infantile, familial (TBC1D24)
• Myoclonic-atonic epilepsy (SLC6A1)
• Myoclonus, familial, 2 (SCN8A)
• Myokymia (KCNQ2)
• NESCAV syndrome (KIF1A)
• Nephrotic syndrome, type 15 (MAGI2)
• Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
• Neurodegeneration with brain iron accumulation 5 (WDR45)
• Neurodegeneration, childhood-onset, stress-induced, with variable ataxia + seizures (ADRPS)
• Neurodevelopmental disorder with absent language + variable seizures (WASF1)
• Neurodevelopmental disorder with brain anomalies, seizures + scoliosis (PIGU)
• Neurodevelopmental disorder with cerebellar atrophy with/-out seizures (BRAT1)
• Neurodevelopmental disorder with hypotonia, autistic features with/-out hyperkineses (VAMP2)
• Neurodevelopmental disorder with hypotonia, impaired expressive language with/-out seizures (DEAF1)
• Neurodevelopmental disorder with hypotonia, seizures + absent language (HECW2)
• Neurodevelopmental disorder with impaired speech + hyperkinetic movements (ZNF142)
• Neurodevelopmental disorder with involuntary movements (GNAO1)
• Neurodevelopmental disorder with microcephaly, seizures + cortical atrophy (VARS)
• Neurodevelopmental disorder with poor language + loss of hand skills (GABBR2)
• Neurodevelopmental disorder with seizures + nonepileptic hyperkinetic movements (CACNA1B)
• Neurodevelopmental disorder with seizures, speech + walking impairment (DHPS)
• Neurodevelopmental disorder with severe motor impairment + absent language (DHX30)
• Neurodevelopmental disorder with structural brain anomalies with/-out seizures + spasticity (PTPN23)
• Neurodevelopmental disorder with/-out hyperkinetic movements + seizures, AD (GRIN1)
• Neurodevelopmental disorder with/-out seizures + gait abnormalities (GRIA4)
• Neurodevelopmental disorder, ataxic gait, absent speech, decreased cortical white matter (RAB11B)
• Neurodevelopmental disorder, epilepsy, cataracts, feeding diff., delayed brain myelination (NACC1)
• Neurodevelopmental disorder, language delay with/-out structural brain abnormalities (PPP2CA)
• Neurodevelopmental disorder, mt, abnormal movements, lactic acidosis, with/_out seizures (WARS2)
• Neurodevelopmental disorder, progressive microcephaly, spasticity + brain anomalies (PLAA)
• Neurooculocardiogenitourinary syndrome (WDR37)
• Neutropenia, severe congenital 3, AR (HAX1)
• Nicolaides-Baraitser syndrome (SMARCA2)
• O'Donnell-Luria-Rodan syndrome (KMT2E)
• Occipital horn syndrome (ATP7A)
• Odontohypophosphatasia (ALPL)
• Ohdo syndrome, XL (MED12)
• Opitz-Kaveggia syndrome (MED12)
• Optic atrophy 10 with/-out ataxia, mental retardation + seizures (RTN4IP1)
• Ovarioleukodystrophy (EIF2B2, -4, -5)
• Paroxysmal nonkinesigenic dyskinesia, 3, with/_out generalized epilepsy (KCNMA1)
• Periventricular heterotopia with microcephaly (ARFGEF2)
• Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
• Perrault syndrome 1 (HSD17B4)
• Phenylketonuria (PAH)
• Phosphoglycerate dehydrogenase deficiency (PHGDH)
• Pierpont syndrome (TBL1XR1)
• Pitt-Hopkins like syndrome 1 (CNTNAP2)
• Pitt-Hopkins syndrome (TCF4)
• Pitt-Hopkins-like syndrome 2 (NRXN1)
• Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
• Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
• Pontocerebellar hypoplasia type 2A, 4, 5 (TSEN54)
• Pontocerebellar hypoplasia type 2D (SEPSECS)
• Pontocerebellar hypoplasia, type 1B (EXOSC3)
• Pontocerebellar hypoplasia, type 6 (RARS2)
• Pontocerebellar hypoplasia, type 9 (AMPD2)
• Primary aldosteronism, seizures + neurologic abnormalities (CACNA1D)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)
• Propionicacidemia (PCCA, PCCB)
• Pseudo-TORCH syndrome 1 (OCLN)
• Pyridoxamine 5'-phosphate oxidase deficiency (PNPO)
• Pyruvate dehydrogenase E1-alpha deficiency (PCDH1)
• Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
• Raynaud-Claes syndrome (CLCN4)
• Rett syndrome (MECP2)
• Rett syndrome, atypical (MECP2)
• Rett syndrome, congenital variant (FOXG1)
• Rett syndrome, preserved speech variant (MECP2)
• Rigidity + multifocal seizure syndrome, lethal neonatal (BRAT1)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• SESAME syndrome (KCNJ10)
• Salt + pepper developmental regression syndrome (ST3GAL5)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS, KRAS)
• Schindler disease, type I + III (NAGA)
• Schinzel-Giedion midface retraction syndrome (SETBP1)
• Schuurs-Hoeijmakers syndrome (PACS1)
• Seizures, benign familial infantile, 2 (PRRT2)
• Seizures, benign familial infantile, 3 (SCN2A)
• Seizures, benign familial infantile, 5 (SCN8A)
• Seizures, benign neonatal, 1 (KCNQ2)
• Seizures, benign neonatal, 2 (KCNQ3)
• Seizures, cortical blindness, microcephaly syndrome (DIAPH1)
• Short stature, brachydactyly, intellectual developmental disability, seizures (PRMT7)
• Smith-Kingsmore syndrome (MTOR)
• Sotos syndrome 1 (NSD1)
• Spastic paraplegia + psychomotor retardation with/-out seizures (HACE1)
• Spastic paraplegia 63 (AMPD2)
• Spastic tetraplegia, thin corpus callosum + progressive microcephaly (SLC1A4)
• Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SLC1A4)
• Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (CACNA1G)
• Spinocerebellar ataxia, AR 12 (WWOX)
• Spinocerebellar ataxia, AR 23 (TDP2)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1
• Sturge-Weber syndrome, somatic, mosaic (GNAQ)
• Subcortical laminal heterotopia, XL (DCX)
• Subcortical laminar heterotopia (PAFAH1B1)
• Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
• Sulfite oxidase deficiency (SUOX)
• Tay-Sachs disease (HEXA)
• Temtamy syndrome (C12orf57)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)
• Vasculopathy, retinal, with cerebral leukodystrophy (TREX1)
• Vici syndrome (EPG5)
• Vulto-van Silfout-de Vries syndrome (DEAF1)
• Warburg micro syndrome 3 (RAB18)
• [Early-onset epileptic encephalopathy] (TRIM8)
• [Intellectual diasability, seizures] (HNRNPR)