EPISODIC ATAXIA, TYPE 1 ( EA1)

Question 1

What is  EPISODIC ATAXIA, TYPE 1 ( EA1)?

Accepted Answer

rare

autosomal dominant

mutation in the potassium channel gene KCNA1

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 160120

Question 3

Which enzymes are involved?

Accepted Answer

Potassium voltage-gated channel subfamily A member 1

Disease	EPISODIC ATAXIA, TYPE 1 ( EA1)
Synonym	EPISODIC ATAXIA WITH MYOKYMIA; EAM; KCNA1 DEFICIENCY
OMIM	160120 OMIM = Online Mendelian Inheritance of Men
Orphanet	37612
Protein (UniProt)	Potassium voltage-gated channel subfamily A member 1
Gene locus	12p13.32
ICD	G11.8
Summary	rare autosomal dominant mutation in the potassium channel gene KCNA1
Laboratory findings	Creatine kinase normal/inc (serum)
Symptoms	myokymia ataxia chorea or athetosis tremor or twitching dysarthria dyskinesia EMG abnormalities [-] gait disturbance headache (severe, recurrent or occipital, migraine) hyperreflexia hyperthermia muscle cramps onset, childhood onset, infancy pain, muscle vertigo, dizziness