Episodic ataxia, type 1

Preferred Label : Episodic ataxia, type 1;

Symbol : EA1;

CISMeF acronym : AEM; AEMK; EAM; EA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Episodic ataxia with myokymia; Ataxia, episodic, with myokymia; Paroxysmal ataxia with neuromyotonia, hereditary; Myokymia with periodic ataxia; EAM; AEM; AEMK;

Included titles and symbols : Myokymia 1; Continuous muscle fiber activity, hereditary; Isaacs-mertens syndrome; Myokymia 1 with or without hypomagnesemia;

Description : Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). - Genetic Heterogeneity of Episodic Ataxia Episodic ataxia is a genetically heterogeneous disorder. See also EA2 (108500), caused by mutation in the CACNA1A gene (601011) on chromosome 19p13; EA3 (606554), which has been mapped to chromosome 1q42; EA4 (606552); EA5, caused by mutation in the CACNB4 gene (601949) on chromosome 2q22-q23; EA6 (612656), caused by mutation in the SLC1A3 gene (600111) on chromosome 5p13, and EA7 (611907), which has been mapped to chromosome 19q13. Isolated myokymia-2 (see 121200) is associated with mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, shaker-related subfamily, member 1 gene (KCNA1, 176260.0001);

Laboratory abnormalities : Increased serum creatine kinase during episodes;

Prefixed ID : #160120;

Details

Origin ID

160120;

UMLS CUI

C1719788;

Automatic exact mappings (from CISMeF team)
- 2-aminoethylmethacrylate [MeSH Supplementary Concept]
- 2-aminoethylmethyl sulfone [MeSH concept]
- 2-aminoethylmethyl sulfone [MeSH Supplementary Concept]
- AEM [MeSH concept]
- CD69 wt Allele [NCIt concept]
- Early Activation Antigen CD69 [NCIt concept]
- European Medicines Agency [NCIt concept]
- Hereditary continuous muscle fiber activity [ORDO Disease]
- Hereditary continuous muscle fibre activity [ICD-11 More detail]
- Isaacs syndrome (disorder) [SNOMED CT concept]
- continuous muscle fiber activity, hereditary [MeSH Supplementary Concept]
- continuous muscle fiber activity, hereditary [MeSH concept]
- isaacs syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Episodic ataxia type 1 [ORDO Disease]
- Episodic ataxia type 1 (disorder) [SNOMED CT concept]
- Episodic ataxia type 1 - KCNA1 mutation [ICD-11 More detail]
- episodic ataxia type 1 [DO Concept]
- episodic ataxia type 1 [Disease (Nov.)]
- episodic ataxia, type 1 [MeSH concept]
- episodic ataxia, type 1 [MeSH Supplementary Concept]
- myokymia 1 [Disease (Nov.)]
- myokymia 1 [MeSH concept]
- myokymia 1 [MeSH Supplementary Concept]
DO Cross reference
- episodic ataxia type 1 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, shaker-related subfamily, member 1 [OMIM gene]
HPO term(s)
- Abnormality of the hand [HPO term]
- Abnormality of the musculature [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Blurred vision [HPO term]
- Dysarthria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Episodic ataxia [HPO term]
- Headache [HPO term]
- Hyperreflexia [HPO term]
- Incoordination [HPO term]
- Juvenile onset [HPO term]
- Myokymia [HPO term]
- Slurred speech [HPO term]
- Spastic gait [HPO term]
- Tremor [HPO term]
- Variable expressivity [HPO term]
- Vertigo [HPO term]
ORDO concept(s)
- Episodic ataxia type 1 [ORDO Disease]
- Hereditary continuous muscle fiber activity [ORDO Disease]
See also inter- (CISMeF)
- neuromyotonia [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic ataxia type 1 [ORDO Disease]
- Episodic ataxia type 1 (disorder) [SNOMED CT concept]
- Episodic ataxia type 1 - KCNA1 mutation [ICD-11 More detail]
- episodic ataxia type 1 [DO Concept]
- episodic ataxia type 1 [Disease (Nov.)]
- episodic ataxia, type 1 [MeSH Supplementary Concept]
- episodic ataxia, type 1 [MeSH concept]

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