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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 genes
21 Accredited laboratory test
Examined sequence length
9,3 kb (Core-/Core-canditate-Genes)
44,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ADCY53786NM_183357.3AD
KCNMA13537NM_002247.4AD
PNKD429NM_015488.5AD
SLC2A11479
  • No OMIM-Gs linked
NM_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
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