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Summary
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 EIEE11
613721
OMIM = Online Medalian Inheritance of Men
1934
2q24.3
rare
autosomal dominant
mutation in the SCN2A gene
symptoms
chorea or athetosis
developmental delay
encephalopathy
epilepsy
hypotonia
onset, infancy
seizures
spastic diplegia/quadriplegia
laboratory finding
EEG abnormalities -
no specific laboratory findings (P, S, U ,CSF)
Literature
Ariceta G,et al.Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosisNefrologia353304-3212015
Servais A,et al.Cystinosis in adults: A systemic diseaseNephrol Ther113152-1592015
Bacchetta J,et al.Skeletal implications and management of cystinosis: three case reports and literature reviewBonekey Rep508282016
Veys KR,et al.Cystinosis: a new perspectiveActa Clin Belg713131-1372016