IllnessEpilepsy, familial focal; differential diagnosis

NGS +

Familial focal epilepsy (with variable foci) is a rare form of epilepsy. Seizures may begin in infancy through adulthood, are partially localized usually in the temporal or frontal lobes and do not cause loss of consciousness. Affected family members may have variable foci, and other individuals have focal cortical dysplasia. Most people with focal epilepsy are intellectually unremarkable. The overall DNA diagnostic yield has been described as between 16-29%. Therefore, inconspicuous findings by no means exclude the clinical diagnosis. References: https://www.ncbi.nlm.nih.gov/books/NBK385626/https://www.ncbi.nlm.nih.gov/books/NBK525917/https://www.ncbi.nlm.nih.gov/books/NBK201978/https://www.ncbi.nlm.nih.gov/books/NBK1537/https://www.ncbi.nlm.nih.gov/books/NBK32534/

• Alias: Cortical dysplasia-focal epilepsy syndrome
• Alias: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
• Alias: Malignant migrating focal seizures of infancy
• Allelic: Autism susceptibility 15 (CNTNAP2)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Cognitive impairment with/-out cerebellar ataxia (SCN8A)
• Allelic: Episodic ataxia, type 9 (SCN2A)
• Allelic: Lissencephaly 2, Norman-Roberts type (RELN)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
• Allelic: Myokymia (KCNQ2)
• Allelic: Optic atrophy 5 (DNM1L)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
• Developmental + epileptic encephalopathy (SCN2A)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 34 (SLC12A5)
• Developmental + epileptic encephalopathy 6B, non-Dravet (SCN1A)
• Developmental + epileptic encephalopathy 7 (KCNQ2)
• Developmental + epileptic encephalopathy 9 (PCDH19)
• Dravet syndrome (SCN1A)
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
• 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 (LGI1)
• Epilepsy, familial temporal lobe, 5 (CPA6)
• Epilepsy, familial temporal lobe, 7 (RELN)
• Epilepsy, focal, with speech disorder + with/-out impaired intellectual development (GRIN2A)
• Epilepsy, idiopathic generalized, susceptibility to, 14 (SLC12A5)
• Epilepsy, nocturnal frontal lobe, 1 (CHRNA4)
• Epilepsy, nocturnal frontal lobe, 3 (CHRNB2)
• Epilepsy, nocturnal frontal lobe, 4 (CHRNA2)
• Epilepsy, nocturnal frontal lobe, 5 (KCNT1)
• Epileptic encephalopathy, early infantile, 14 (KCNT1)
• Epileptic encephalopathy, early infantile, 62 (SCN3A)
• Episodic kinesigenic dyskinesia 1 (PRRT2)
• Febrile seizures, familial, 11 (CPA6)
• Febrile seizures, familial, 3A (SCN1A)
• Focal cortical dysplasia, type II, somatic (MTOR)
• Focal cortical dysplasia, type II, somatic (TSC1)
• Focal cortical dysplasia, type II, somatic (TSC2)
• Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
• Hypochondroplasia (FGFR3)
• Lateral temporal epilepsy, AD [Lit.] (MICAL1)
• Mental retardation, AD 13 (DYNC1H1)
• Migraine, familial hemiplegic, 3 (SCN1A)
• Muenke syndrome (FGFR3)
• Myoclonus, familial, 2 (SCN8A)
• Neurodevelopmental disorder with brain anomalies, seizures + scoliosis (PIGU)
• Neurodevelopmental disorder with cerebellar atrophy + with/-out seizures (BRAT1)
• Neurodevelopmental disorder with language impairment + behavioral abnormalities (GRIA2)
• Pitt-Hopkins like syndrome 1 (CNTNAP2)
• Rigidity + multifocal seizure syndrome, lethal neonatal (BRAT1)
• 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)
• Smith-Kingsmore syndrome (MTOR)
• Tuberous sclerosis-1 (TSC1)
• Tuberous sclerosis-2 (TSC2)