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IllnessParoxysmal non-kinesigenic dyskinesia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Paroxysmal non-kinesigenic dyskinesia, differential diagnosis, comprising 2 guideline-curated genes, in toto 5 core/core candidate genes and altogether 34 curated genes according to the clinical signs

ID
PP9238
Number of loci
Locus typeCount
Gen 23
Accredited laboratory test
Examined sequence length
10,3 kb (Core-/Core-canditate-Genes)
46,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADCY53786NM_183357.3AD
KCNMA13537NM_002247.4AD
PNKD429NM_015488.5AD
PRRT21023NM_145239.3AD
SLC2A11479NM_006516.4AD, AR
ATP1A33042NM_152296.5AD
CACNA1A6786NM_001127221.2AD
CHRNA21590NM_000742.4AD
CHRNA41884NM_000744.7AD
CHRNB21509NM_000748.3AD
CRH591NM_000756.4Mult
DEPDC54812NM_001242896.3AD
DLAT1944NM_001931.5AR
FGF14744NM_004115.4AD
GCH1753NM_000161.3AD, AR
KCNT13708NM_020822.3AD
LIAS990NM_001278590.2AR
NKX2-11206NM_001079668.3AD
PDHA11173NM_000284.4XL
PDHB1080NM_000925.4AR
PDHX1506NM_003477.3AR
PDK31248NM_001142386.3XL
PDP11689NM_001161779.2AR

Informations about the disease

Synonyms
  • Alias: Familial Paroxysmal Nonkinesigenic Dyskinesia
  • Alias: Paroxysmal Dystonic Choreoathetosis
  • Alias: Paroxysmal Nonkinesigenic Dyskinesia
  • Alias: Paroxysmale nicht-kinesiogene Choreoathetose
  • Alias: Paroxystic non-kinesigenic choreoathetosis
  • Allelic: Deafness, AD 65 (TBC1D24)
  • Allelic: Deafness, AR 86 (TBC1D24)
  • Allelic: Fetal akinesia, respiratory insuff., microcephaly, polymicrogyria, dysmorphic face (ATP1A)
  • Allelic: Nicotine addiction, susceptibility to (CHRNA4)
  • Alternating hemiplegia of childhood 1 (ATP1A2)
  • Alternating hemiplegia of childhood 2 (ATP1A3)
  • Basal ganglia calcification, idiopathic, 1 (SLC20A2)
  • CAPOS syndrome (ATP1A3)
  • Cerebellar atrophy, developmental delay + seizures (KCNMA1)
  • Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Cognitive impairment with/-out cerebellar ataxia (SCN8A)
  • Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • DOORS syndrome (TBC1D24)
  • Developmental + epileptic encephalopathy 13 (SCN8A)
  • Developmental + epileptic encephalopathy 16 (TBC1D24)
  • Developmental + epileptic encephalopathy 17 (GNAO1)
  • Developmental + epileptic encephalopathy 42 (CACNA1A)
  • Developmental + epileptic encephalopathy 64 (RHOBTB2)
  • Developmental + epileptic encephalopathy 98 (ATP1A2)
  • Dihydrolipoamide dehydrogenase deficiency (DLD)
  • Dyskinesia, familial, with facial myokymia (ADCY5)
  • Dystonia 9 (SLC2A1)
  • Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
  • Dystonia-12 (ATP1A3)
  • Epilepsy, familial focal, with variable foci 1 (DEPDC5)
  • Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
  • Epilepsy, nocturnal frontal lobe, 1 (CHRNA4)
  • Epilepsy, nocturnal frontal lobe, 3 (CHRNB2)
  • Epilepsy, nocturnal frontal lobe, type 4 (CHRNA2)
  • Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
  • Episodic ataxia, type 2 (CACNA1A)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Glycine encephalopathy (GLDC)
  • Hyperglycinemia, lactic acidosis + seizures (LIAS)
  • Hyperphenylalaninemia, BH4-deficient, B (GCH1)
  • Intellectual developmental disorder with paroxysmal dyskinesia or seizures (PDE2A)
  • Lacticacidemia due to PDX1 deficiency (PDHX)
  • 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)
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
  • Myoclonic epilepsy, infantile, familial (TBC1D24)
  • Myoclonus, familial, 2 (SCN8A)
  • Neurodevelopmental disorder with involuntary movements (GNAO1)
  • Parkinson disease, juvenile, type 2 (PRKN)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Paroxysmal nonkinesigenic dyskinesia, 3, with/-out generalized epilepsy (KCNMA1)
  • Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
  • Pyruvate dehydrogenase E1-beta deficiency (PDHB)
  • Pyruvate dehydrogenase E2 deficiency (DLAT)
  • Pyruvate dehydrogenase phosphatase deficiency (PDP1)
  • Seizures, benign familial infantile, 2 (PRRT2)
  • Seizures, benign familial infantile, 5 (SCN8A)
  • Spinocerebellar ataxia 27 (FGF14)
  • Spinocerebellar ataxia 6 (CACNA1A)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined