Klinische FragestellungKanal-Erkrankungen, Gehirn; Differentialdiagnose

NGS + X

[Sanger]

Episodische Störungen oft mit Ataxie (Gehprobleme, zusätzliche Bewegungen, steife Beine, Schwäche, Kopfschmerzen, Übelkeit) für Minuten/ Stunden; Dystonie, manchmal über längere Zeit; verschiedene Attacken (Arme/Beine); Migräne; Dysarthrie; primärer Kopfschmerz als hemiplegische Migräne oder Cluster-Kopfschmerz; Ausschluss von Tumoren, Bandscheiben, demyelinisierenden Ursachen; AD, AR oder XL; Medikamente (Lamotrigin, Acetazolamid) oft wirksam

• Alias: Brain channelopathy
• Allelic: Atrial fibrillation, familial, 9 (KCNJ2)
• Allelic: Parkinson disease, susceptibility to (TBP)
• Allelic: Short QT syndrome 3 (KCNJ2)
• Alternating hemiplegia of childhood 1 (ATP1A2)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• Andersen syndrome (KCNJ2)
• CAPOS syndrome (ATP1A3)
• Cerebellar atrophy, developmental delay, seizures (KCNMA1)
• Cognitive impairment with/-out cerebellar ataxia (SCN8A)
• Congenital hypotonia, epilepsy, developmental delay, digital anomalies (ATN1)
• Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• Dentatorubral-pallidoluysian atrophy (ATN1_CAG)
• Developmental + epileptic encephalopathy 13 (SCN8A)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 7 (KCNQ2)
• Dravet syndrome (SCN1A)
• Dyskinesia, familial, with facial myokymia (ADCY5)
• Dystonia 9 (SLC2A1)
• Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (SPR)
• Dystonia-12 (ATP1A3)
• Epilepsy, generalized, with febrile seizures plus, type 2 (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, progressive myoclonic 1A [Unverricht + Lundborg] (CSTB_CCCCGCCCCGCG)
• 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, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Hyperekplexia 1 (GLRA1)
• Hyperekplexia 2 (GLRB)
• Hyperekplexia 3 (SLC6A5)
• Liang-Wang syndrome (KCNMA1)
• 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)
• Myoclonus, familial, 2 (SCN8A)
• Myokymia (KCNQ2)
• Parkinson disease, susceptibility to (TBP)
• Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
• Paroxysmal nonkinesigenic dyskinesia, 3, with/-out generalized epilepsy (KCNMA1)
• Seizures, benign familial infantile, 2 (PRRT2)
• Seizures, benign familial infantile, 5 (SCN8A)
• Seizures, benign neonatal, 1 (KCNQ2)
• Seizures, benign neonatal, 2 (KCNQ3)
• Spinocerebellar ataxia 17 (TBP_CAG)
• Spinocerebellar ataxia 6 (CACNA1A_CAG)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Wilson disease (ATP7B)