PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

OBJECTIVE: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families...

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Hlavní autoři: Scheffer, Ingrid E., Grinton, Bronwyn E., Heron, Sarah E., Kivity, Sara, Afawi, Zaid, Iona, Xenia, Goldberg-Stern, Hadassa, Kinali, Maria, Andrews, Ian, Guerrini, Renzo, Marini, Carla, Sadleir, Lynette G., Berkovic, Samuel F., Dibbens, Leanne M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511925/
https://ncbi.nlm.nih.gov/pubmed/23077018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182752c6c
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