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KCNA1 - potassium voltage-gated channel subfamily A member 1
- Synonym(s) : HUK1, Kv1.1, MBK1, RBK1
- Previous symbols and names : AEMK, potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
- Type : gene with protein product
- Chromosomal location : 12p13.32
- OMIM: 176260
- HGNC: 6218
- UniProtKB: Q09470
- Genatlas: KCNA1
- GenCC: KCNA1
- Ensembl: ENSG00000111262
- IUPHAR-DB: 538
- Reactome: Q09470
- LOVD: KCNA1
Diseases list
- Disease-causing germline mutation(s) in Early infantile epileptic encephalopathy
ORPHA:1934 
- Disease-causing germline mutation(s) in Episodic ataxia type 1
ORPHA:37612 - Disease-causing germline mutation(s) in Hereditary continuous muscle fiber activity
ORPHA:972 - Disease-causing germline mutation(s) in Isolated autosomal dominant hypomagnesemia, Glaudemans type
ORPHA:199326 - Disease-causing germline mutation(s) in Paroxysmal kinesigenic dyskinesia
ORPHA:98809
: AssessedAdditional information
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