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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 EIEE32
616366
OMIM = Online Medalian Inheritance of Men
442835
1p13.3
rare
autosomal dominant
mutation in the KCNA2 gene
symptoms
ataxia
encephalopathy
epilepsy
intellectual disability/intellectual developmental disorder (ID/ IDD)
microcephaly (<2 SD for age)
myoclonus
onset, infancy
onset, neonatal
seizures
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Auranen M,et al.Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapyNeuromuscul Disord276581-5842017
UniProt: the universal protein knowledgebaseThe UniProt ConsortiumNucleic Acids Res. 2017 Jan 445(D1):D158-D169.451D158-1692017
Chen C,Huang H, Wu CHProtein Bioinformatics Databases and ResourcesMethods Mol Biol. 20171558:3-391558033-392017
Wen JG,et al.Melamine-contaminated milk formula and its impact on children.Asia Pac J Clin Nutr254697-7052016
Guan X,Deng YMelamine-associated urinary stoneInt J Surg360613-6172016
Garcia-Villoria J,et al.FLAD1, a Recently Described Gene Associated to Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is Mutated in a Patient With Myopathy, Scoliosis, and CataractsJ Inborn Errors Metab Screen (ICIEM 2017 Rio de Janeiro, Brazil)002017
Barile M,et al.Riboflavin transport and metabolism in humansJ Inherit Metab Dis394545-5572016
Barile M,et al.Riboflavin transport and metabolism in humansJ Inherit Metab Dis394545-5572016
Auranen M,et al.Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapyNeuromuscul Disord276581-5842017