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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBrain channelopathies, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Channelopathies (brain) comprising 23 or 24 curated genes according to the clinical signs

ID
KP5678
Number of genes
22 Accredited laboratory test
Examined sequence length
3,8 kb (Core-/Core-canditate-Genes)
57,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ADCY53786AD, AR
ATP1A23063AD
ATP1A33042AD
ATP7B4398AR
CACNA1A6786AD
CACNB41563AD
GLRA11350AD, AR
GLRB1494AR
KCNA11488AD
KCNJ21284AD
KCNK181155AD
KCNMA13537AD, AR
KCNQ22619AD
KCNQ32619AD
PNKD429AD
PRRT21023AD
SCN1A6030AD
SCN8A5943AD
SLC1A31629AD
SLC2A11479AD, AR
SLC6A52394AD, AR
SPR786AR

Informations about the disease

Clinical Comment

Episodic disorders often with ataxia (walking problems, abnormal extra movements, stiff legs, weakness, headache, nausea) for minutes/ hours

Dystonia, sometimes exhausting for longer times

Different attacks (arms/legs); migraine and dysarthria

Primary headache as hemiplegic migraine or cluster headache

Exclude tumors, discs, demyelinating causes

AD, AR or XL; drugs (Lamotrigine, acetazolamide) often effective

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G93.-

Bioinformatics and clinical interpretation

No text defined