Klinische FragestellungParoxysmale ZNS-Erkrankungen [prädominant Dyskinesie, prädominant episodische Ataxie]; DD

NGS +

Sehr heterogene Gruppe von Erkrankungen

• Allelic: Cognitive impairment with or without cerebellar ataxia (SCN8A)
• Allelic: Deafness, AD 65 (TBC1D24)
• Allelic: Deafness, AR 86 (TBC1D24)
• Allelic: Liang-Wang syndrome (KCNMA1)
• Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
• Allelic: Spinocerebellar ataxia 6 (CACNA1A)
• Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Allelic: Striatal degeneration, AD (PDE10A)
• Advanced sleep-phase syndrome, familial, 2 (CSNK1D)
• Alternating hemiplegia of childhood 1 (ATP1A2)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• CAPOS [Cereb. ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorin. hearing loss ] synd. (ATP1A3)
• Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
• Cerebellar atrophy, developmental delay, seizures (KCNMA1)
• Chorea, hereditary benign (NKX2-1)
• Choreoathetosis, hypothyroidism, and neonatal respiratory distress (NKX2-1)
• Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• DOORS syndrome (TBC1D24)
• Developmental + epileptic encephalopathy 16 (TBC1D24)
• Developmental + epileptic encephalopathy 64 (RHOBTB2)
• Developmental + epileptic encephalopathy 6B, non-Dravet (SCN1A)
• Dravet syndrome (SCN1A)
• Dyskinesia, familial, with facial myokymia (ADCY5)
• Dyskinesia, limb and orofacial, infantile-onset (PDE10A)
• Dystonia 9 (SLC2A1)
• Dystonia-12 (ATP1A3)
• Epilepsy, generalized, with febrile seizures plus, type2 (SCN1A)
• Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
• Epilepsy, idiopathic generalized, susceptibility to, 9 (CACNB4)
• Epilepsy, juvenile myoclonic, susceptibility to, 6 (CACNB4)
• Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Epileptic encephalopathy, early infantile, 13 (SCN8A)
• Epileptic encephalopathy, early infantile, 42 (CACNA1A)
• Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
• Epileptic encephalopathy, early infantile, 7 (KCNQ2)
• Episodic ataxia, type 2 (CACNA1A)
• Episodic ataxia, type 5 (CACNB4)
• Episodic ataxia, type 6 (SLC1A3)
• Episodic ataxia/myokymia syndrome (KCNA1)
• Episodic kinesigenic dyskinesia 1 (PRRT2)
• Febrile seizures, familial, 3A (SCN1A)
• GLUT1 deficiency syndrome 1, infantile onset (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
• Hyperekplexia 1 (GLRA1)
• Hyperekplexia 2 (GLRB)
• Hyperekplexia 3 (SLC6A5)
• Hyperekplexia 4 (ATAD1)
• Intellectual developmental disorder with paroxysmal dyskinesia or seizures (PDE2A)
• 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)
• Migraine, with/-out aura, susceptibility to, 13 (KCNK18)
• Myoclonic epilepsy, infantile, familial (TBC1D24)
• Myoclonus, familial, 2 (SCN8A)
• Myokymia (KCNQ2)
• Myokymia with periodic ataxia (KCNA1)
• Narcolepsy 7 (MOG)
• Neurodevelopmental disorder, hypotonia + autistic features +/- hyperkinetic movements (VAMP2)
• Paroxysmal exertion-induced dyskinesia with/without epilepsy and/or hemolytic anemia (SLC2A1)
• Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
• Paroxysmal nonkinesigenic dyskinesia, with/-out generalized epilepsy (KCNMA18)
• Seizures, benign familial infantile, 2 (PRRT2)
• Seizures, benign familial infantile, 5 (SCN8A)
• Seizures, benign neonatal, 1 (KCNQ2)
• Spinocerebellar ataxia 27 (FGF14)