✦ LIBER ✦

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

✍ Scribed by Xihui Zhou; Aiqun Ma; Xiaohong Liu; Chen Huang; Yanmin Zhang; Ruiming Shi; Shiwei Mao; Tao Geng; Shengbin Li

Publisher: Springer
Year: 2006
Tongue: English
Weight: 154 KB
Volume: 165
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-006-0157-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation of the ATP2A2

A novel missense mutation of the ATP2A2 gene in a Chinese family with Darier’s disease

✍ Sen Yang; Liang-Dan Sun; Hong-Sheng Liu; Ji-Yun Wang; Ping-Ping He; Ming Li; Min 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 258 KB

Two Thai families with Norrie disease (N

Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier

✍ Yamada, Koki ;Limprasert, Pornprot ;Ratanasukon, Mansing ;Tengtrisorn, Supaporn 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 1 views

A novel missense mutation (H119L) identi

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)

✍ Mei-Chen Wu; Fuu-jen Tsai; Cheng-Chun Lee; Chang-Hai Tsai; Jer-Yuarn Wu 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

A nonsense mutation of the MASS1 gene in

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

✍ Junko Nakayama; Ying-Hui Fu; Anna M. Clark; Satoko Nakahara; Kenzo Hamano; Nobua 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 1 views

A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures. The human orthologous gene, MASS1, was mapped to chromosome 5q14, for which we previously have reported significan

A novel missense mutation (P191L) in the

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b

✍ Ching-Wan Lam; Kwok-Yin Chan; Sui-Fan Tong; Bik-Yan Chan; Yuk-Tat Chan; Yan-Wo C 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with

Identification of a novel missense mutat

Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b

✍ Ching-Wan Lam; Sui-Fan Tong; Yuen-Yu Lam; Bik-Yan Chan; Chun-Hung Ma; Pak-Leong 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 865 KB