EPISODIC ATAXIA, TYPE 6; EA6

Question 1

What is  EPISODIC ATAXIA, TYPE 6; EA6?

Accepted Answer

rare

autosomal dominant

mutation in the SLC1A3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612656

Question 3

Which enzymes are involved?

Accepted Answer

Excitatory amino acid transporter 1

Disease	EPISODIC ATAXIA, TYPE 6; EA6
OMIM	612656 OMIM = Online Mendelian Inheritance of Men
Orphanet	209967
Protein (UniProt)	Excitatory amino acid transporter 1
Gene locus	5p13.2
ICD	G11.8
Summary	rare autosomal dominant mutation in the SLC1A3 gene
Laboratory findings
Symptoms	ataxia dysarthria headache (severe, recurrent or occipital, migraine) hemiparesis/hemiplegia/hemiparetic cerebral palsy hypotonia motor retardation nausea nystagmus onset, childhood onset, infancy onset, neonatal paresis photophobia or photosensitive defect in light-exposed area seizures vomiting