EPISODIC ATAXIA, TYPE 2; EA2

Question 1

What is  EPISODIC ATAXIA, TYPE 2; EA2?

Accepted Answer

rare

auitosomal dominant

mutation in the calcium ion channel gene CACNA1A

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 108500

Question 3

Which enzymes are involved?

Accepted Answer

Voltage-dependent P/Q-type calcium channel subunit alpha-1A

Disease	EPISODIC ATAXIA, TYPE 2; EA2
Synonym	ATAXIA, EPISODIC, WITH NYSTAGMUS
OMIM	108500 OMIM = Online Mendelian Inheritance of Men
Orphanet	97
Protein (UniProt)	Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Gene locus	19p13.13
ICD	G11.8
Summary	rare auitosomal dominant mutation in the calcium ion channel gene CACNA1A
Laboratory findings
Symptoms	ataxia cerebral atrophy dysarthria dystonia epilepsy headache (severe, recurrent or occipital, migraine) hemiparesis/hemiplegia/hemiparetic cerebral palsy MRI, brain, abnormalities [-] nystagmus onset, adolescent onset, childhood paresis paresthesia vertigo, dizziness