Results 211 to 220 of about 1,544,422 (378)

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, EarlyView.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source

Clinical phenotype and genotype analysis on a family of Becker muscular dystrophy caused by a novel missense mutation of DMD gene

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize the phenotype and genotype of a family of Becker muscular dystrophy (BMD) caused by a novel missense mutation of DMD gene. Methods and Results Clinical data of one BMD proband and the family members were collected.
Yun-qing GAO, Li-yu OU, Ya-qin LI, Jing LI, Jin-fu LIN, Ruo-jie HE, Huan LI, Yu-ling ZHU, Cheng ZHANG   +8 more
doaj  

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

Journal of Human Genetics, 2015
R. Fukai, Y. Hiraki, H. Yofune, Y. Tsurusaki, M. Nakashima, H. Saitsu, F. Tanaka, N. Miyake, N. Matsumoto   +8 more
semanticscholar   +1 more source

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy [PDF]

, 2016
Atsushi Ishii, Jing‐Qiong Kang, Cara C. Schornak, Ciria C. Hernández, Wangzhen Shen, Joseph C. Watkins, Robert L. Macdonald, Shinichi Hirose   +7 more
openalex   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Loss of the wild-type allele promotes carcinogenesis of bladder urothelial cells with p53 missense mutation [PDF]

Takashi Kobayashi, Akihiro Hamada, Yuki Kita, Toru Sakatani, Kenji Nakamura, Hideaki Takada, Ryosuke Ikeuchi, Shuhei Koike, Norihiko Masuda, Kaoru Murakami, Takeshi Sano, Takayuki Goto, Ryoichi Saito, Yuki Teramoto, Masakazu Fujimoto, Narumi Hatano, Mayumi Kamada, Osamu Ogawa   +17 more
openalex   +1 more source

A novel missense RP1 mutation in retinitis pigmentosa [PDF]

, 2005
Sylvia W. Y. Chiang, D Y Wang, W. M. Chan, Peter Tam, Kelvin Kam Lung Chong, Dennis S.C. Lam, Chi Pui Pang   +6 more
openalex   +1 more source

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE

Epilepsia Open, EarlyView.
Abstract Objective To define and articulate research priorities in epilepsy identified by the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE), addressing key unmet needs across the spectrum of rare and complex epilepsies. Methods This position paper was developed through a structured collaborative process involving patient ...
Sébile Tchaicha, Stéphane Auvin, Sándor Beniczky, Andreas Brunklaus, Lieven Lagae, Emilio Perucca, Rainer Surges, Sophie Adler, Christoph Helmstaedter, Floor Jansen, Guido Rubboli, Philippe Ryvlin, Nicola Specchio, Eugen Trinka, Ingmar Blümcke, Valentina de Giorgis, Katarzyna Kotulska, Gaetan Lesca, Masa Malenica, Amy McTague, Rima Nabbout, Rikke Steensbjerre Møller, Sandra Silva Arrieta, Isabella Brambilla, Małgorzata Kosla, Kees Braun, J. Helen Cross, Alexis Arzimanoglou   +27 more
wiley   +1 more source

Comprehensive assessment of cancer missense mutation clustering in protein structures

Proceedings of the National Academy of Sciences of the United States of America, 2015
A. Kamburov, M. Lawrence, P. Polak, I. Leshchiner, K. Lage, T. Golub, E. Lander, G. Getz   +7 more
semanticscholar   +1 more source

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

, 2002
Richard van Wijk, Gert Rijksen, Eric G. Huizinga, H. Karel Nieuwenhuis, Wouter W. van Solinge   +4 more
openalex   +2 more sources