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Summary
EPISODIC ATAXIA, TYPE 1 ( EA1)
EPISODIC ATAXIA WITH MYOKYMIA EAM KCNA1 DEFICIENCY
160120
OMIM = Online Medalian Inheritance of Men
37612
12p13.32
rare
autosomal dominant
mutation in the potassium channel gene KCNA1
symptoms
ataxia
chorea or athetosis
dysarthria
dyskinesia
gait disturbance
headache (severe, recurrent or occipital, migraine)
hyperreflexia
hyperthermia
muscle cramps
myokymia
onset, childhood
onset, infancy
pain, muscle
tremor or twitching
vertigo, dizziness
laboratory finding
EMG abnormalities -
Creatine kinase U/lserum
Literature
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Oropeza-Moe M,et al.Selenium deficiency associated porcine and human cardiomyopathiesJ Trace Elem Med Biol310148-1562015
Gericke B,et al.Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patientsBiochim Biophys Acta18633817-8262017
Samland AK,Sprenger GATransaldolase: from biochemistry to human diseaseInt J Biochem Cell Biol4171482-14942009
Sperti C,et al.Abdominal localization of Tangier disease mimicking a pancreatic neoplasmEur J Gastroenterol Hepatol. 2008 Oct20(10):1028-31.20101028-10312008
Haberman Y,et al.Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein LocalizationJ Pediatr Gastroenterol Nutr645770-7762017
Freitas RG,et al.Selenium deficiency and the effects of supplementation on preterm infantsRev Paul Pediatr321126-1352014
Orosz F,Olah J, Ovadi JTriosephosphate isomerase deficiency: new insights into an enigmatic diseaseBiochim Biophys Acta1792121168-11742009
Bokhari SRA,Mansur ABartter SyndromeStatPearls Internet002019
Seys E,et al.Clinical and Genetic Spectrum of Bartter Syndrome Type 3J Am Soc Nephrol2882540-25522017
Deutsch SI,et al.Rare neurodevelopmental abnormalities of sarcosinemia may involve glycinergic stimulation of a primed N-methyl-d-aspartate receptorClin Neuropharmacol296361-3632006
Combs GF JrBiomarkers of selenium statusNutrients742209-22362015