Premium
Whole‐Exome Sequencing Revealing De Novo Heterozygous Variant OF KCNT1 in a Twin Discordant for Benign Epilepsy with Centrotemporal Spikes
Author(s) -
Shi Xiuyu,
Chen Jun,
Lu Qian,
He Fusheng,
Zhou Jiaxiu,
Zhou Shaoming,
Zhou Wenhao,
Wang Mingbang,
Zou Liping
Publication year - 2018
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/jpc.13939
Subject(s) - proband , missense mutation , exome sequencing , epilepsy , medicine , sanger sequencing , status epilepticus , exome , genetics , mutation , ictal , rolandic epilepsy , gene , biology , psychiatry
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom