✦ LIBER ✦

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures

✍ Scribed by Kazue Kimura; Takashi Sugawara; Emi Mazaki-Miyazaki; Kyoko Hoshino; Yoshiko Nomura; Akihiko Tateno; Kei Hachimori; Kazuhiro Yamakawa; Masaya Segawa

Book ID: 113498207
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 273 KB
Volume: 27
Category: Article
ISSN: 0387-7604
DOI: 10.1016/j.braindev.2004.11.005

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Familial Occurrence of Febrile Seizures

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

📂 Article 📅 2007 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 72 KB

Familial Occurrence of Febrile Seizures

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

✍ Maria Margherita Mancardi; Pasquale Striano; Elena Gennaro; Francesca Madia; Rob 📂 Article 📅 2006 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 283 KB

Clinical correlations of mutations in th

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy

✍ Berten P.G.M Ceulemans; Lieve R.F Claes; Lieven G Lagae 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 170 KB

SCN1A Mutation Mosaicism in a Family wit

SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy

✍ Masafumi Morimoto; Emi Mazaki; Akira Nishimura; Tomohiro Chiyonobu; Yasuko Sawai 📂 Article 📅 2006 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 252 KB

Novel SCN1A mutations in Indonesian pati

Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy

✍ Elisabeth Siti Herini; Gunadi; Marjan J.A. Van Kempen; Surini Yusoff; Sutaryo; S 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 339 KB

Frequent mutations of SCN1A in severe my

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

✍ Sugawara, T.; Mazaki-Miyazaki, E.; Fukushima, K.; Shimomura, J.; Fujiwara, T.; H 📂 Article 📅 2002 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 191 KB