Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Hackenberg, A; Baumer, A; Sticht, H; Schmitt, B; Kroell-Seger, J; Wille, D; Joset, P; Papuc, S; Rauch, A; Plecko, B.
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
Neuropediatrics. 2014; 45(4): 261-264.
Doi: 10.1055/s-0034-1372302
(- Case Report)
[OPEN ACCESS]
Web of Science
PubMed
FullText
FullText_MUG
- Co-Autor*innen der Med Uni Graz
- Plecko Barbara
- Altmetrics:
- Dimensions Citations:
- Plum Analytics:
- Scite (citation analytics):
- Abstract:
- Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ = ; p.L1342P/ = ), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Whole exome sequencing did not reveal any other disease causing mutation. Our patient contributes to the expanding phenotypic spectrum of SCN2A-related disorders and underlines the importance of genetic workup in epileptic encephalopathies. Georg Thieme Verlag KG Stuttgart · New York.
- Find related publications in this database (using NLM MeSH Indexing)
- Athetosis - genetics
- Brain - physiopathology
- Chorea - genetics
- Disorders of Excessive Somnolence - genetics
- Epilepsy - diagnosis
- Epilepsy - genetics
- Female -
- Humans -
- Infant -
- Mutation, Missense -
- NAV1.2 Voltage-Gated Sodium Channel - genetics
- Find related publications in this database (Keywords)
- intellectual disability
- choreoathetosis
- voltage-gated sodium channel
- seizures