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Summary
EPISODIC ATAXIA, TYPE 2 EA2
ATAXIA, EPISODIC, WITH NYSTAGMUS
108500
OMIM = Online Medalian Inheritance of Men
97
19p13.13
rare
auitosomal dominant
mutation in the calcium ion channel gene CACNA1A
symptoms
ataxia
cerebral atrophy
dysarthria
dystonia
epilepsy
headache (severe, recurrent or occipital, migraine)
hemiparesis/hemiplegia/hemiparetic cerebral palsy
nystagmus
onset, adolescent
onset, childhood
paresthesia
vertigo, dizziness
laboratory finding
MRI, brain, abnormalities -
Literature
Tzakis AG,et al.Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndromeAm J Transplant152565-5672015
Haghighi A,et al.Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patientsOrphanet J Rare Dis901192014
Haberman Y,et al.Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein LocalizationJ Pediatr Gastroenterol Nutr645770-7762017
Stinton C,et al.Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracyOrphanet J Rare Dis121482017
Sass JO,et al.2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolismMol Genet Metab93130-352008
Schuelke MAtaxia with Vitamin E DeficiencyGeneReviews-« Internet002016
Graesbeck RImerslund-Gr+ñsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)Orphanet J Rare Dis10172006
Chen JAn original discovery: selenium deficiency and Keshan disease (an endemic heart disease)Asia Pac J Clin Nutr213320-3262012
Urano FWolfram Syndrome: Diagnosis, Management, and TreatmentCurr Diab Rep16162016
Friedman JSepiapterin Reductase DeficiencyGeneReviews-« Internet002015