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Summary
EPISODIC ATAXIA, TYPE 6 EA6
612656
OMIM = Online Medalian Inheritance of Men
209967
5p13.2
rare
autosomal dominant
mutation in the SLC1A3 gene
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
photophobia or photosensitive defect in light-exposed area
seizures
vomiting
laboratory finding
Literature
Lane C,Milne E, Freeth MCognition and Behaviour in Sotos Syndrome: A Systematic ReviewPLoS One112e01491892016
Nowaczyk MJMWassif CASmith-Lemli-Opitz SyndromeGeneReviews-« Internet002020
Sotos JFSotos syndrome 1 and 2Pediatr Endocrinol Rev1212-162014
Franceschetti S,Canafoglia LSialidosesEpileptic Disord182289-932016
Siddiqui Z,Osayande ASSelected disorders of malabsorptionPrim Care383395-4172011
Haberman Y,et al.Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein LocalizationJ Pediatr Gastroenterol Nutr645770-7762017
Nowaczyk MJ,Irons MBSmith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiologyAm J Med Genet C Semin Med Genet1604250-2622012