Episodic ataxia, type 9

Preferred Label : Episodic ataxia, type 9;

Symbol : EA9;

CISMeF acronym : EA9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, voltage-gated, type II, alpha subunit gene (SCN2A, 182390.0011);

Prefixed ID : #618924;

Détails

Origin ID

618924;

UMLS CUI

C5394520;

Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 2 [OMIM gene]
HPO term(s)
- Arachnoid cyst [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar edema [HPO term]
- Clonic seizure [HPO term]
- Delayed ability to stand [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Episodic ataxia [HPO term]
- Nystagmus [HPO term]
- Paroxysmal vertigo [HPO term]
- Seizure [HPO term]
- Status epilepticus [HPO term]
- Tonic seizure [HPO term]
- Vertigo [HPO term]
- Vomiting [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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