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

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 1 Leitlinien-kuratierten Gen bzw. insgesamt 27 kuratierten Genen zur umfassenden Untersuchung der Verdachtsdiagnose Paroxysmale ZNS-Erkrankungen [prädominant Dyskinesie, prädominant episodische Ataxie]

ID
PP2299
Anzahl Gene
21 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,5 kb (Core-/Core-canditate-Gene)
56,6 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ADCY53786AD, AR
CACNA1A6786AD
KCNA11488AD
KCNMA13537AD
PNKD429AD, Sus
PRRT21023AD
SCN8A5943AD
SLC2A11479AD, AR
ATP1A23063AD
ATP1A33042AD
CACNB41563AD
CSNK1D1248AD
DNMT14899AD
GLRA11350AD, AR
KCNK181155AD
KCNQ22619AD
MOG744AD
PDE10A2370AR
SCN1A6030AD, digenisch
SLC1A31629AD
SLC6A52394AD, AR

Infos zur Erkrankung

Klinischer Kommentar

Sehr heterogene Gruppe von Erkrankungen

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Sus
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H81.1

Bioinformatik und klinische Interpretation

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