An Inherited Nonsense R1645X Mutation in Neuronal Sodium Channel alpha 1-Subunit Gene in a Turkish Patient with Severe Myoclonic Epilepsy of Infancy
Küçük Resim Yok
Tarih
2009
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Georg Thieme Verlag Kg
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Severe myoclonic epilepsy of infancy (SMEI) is a well-known catastrophic epileptic syndrome. Several mutations of the sodium channel alpha I subunit (SCN1A) gene were reported in patients with SMEI. Most of the mutations were de novo. Inherited truncating mutations are very rare. Here a patient with a new nonsense mutation (c.4933 C>T: p.R1645X) of the gene is described. This mutation was inherited from the father who had only febrile seizures during childhood.
Açıklama
Anahtar Kelimeler
severe myoclonic epilepsy of infancy, sodium channel alpha 1 subunit, inherited mutation, nonsense
Kaynak
Neuropediatrics
WoS Q Değeri
Q3
Scopus Q Değeri
Cilt
40
Sayı
2
