机译:一种新的SLC1A4纯合突变,导致先天性微微术,癫痫脑病和痉挛性痉挛性突变:视频脑电图和牵引程度研究
Univ Messina Dept Human Pathol Adult &
Dev Age Gaetano Barresi Unit Child Neurol &
Psychiat;
UCL Inst Neurol Dept Mol Neurosci London England;
Univ Messina Dept Human Pathol Adult &
Dev Age Gaetano Barresi Unit Child Neurol &
Psychiat;
Univ Messina Neuroradiol Unit Dept Biomed Sci &
Morphol &
Funct Imaging Messina Italy;
Univ Messina Neuroradiol Unit Dept Biomed Sci &
Morphol &
Funct Imaging Messina Italy;
UCL Inst Neurol Dept Mol Neurosci London England;
Oasi Res Inst IRCCS Unit Neuromuscular Dis Troina Italy;
Univ Messina Dept Human Pathol Adult &
Dev Age Gaetano Barresi Unit Child Neurol &
Psychiat;
UCL Inst Neurol Dept Mol Neurosci London England;
Univ Messina Dept Human Pathol Adult &
Dev Age Gaetano Barresi Unit Child Neurol &
Psychiat;
SLC1A4 gene; whole-exome sequencing; developmental and epileptic encephalopathy; video-EEG; tractography;
机译:一种新的SLC1A4纯合突变,导致先天性微微术,癫痫脑病和痉挛性痉挛性突变:视频脑电图和牵引程度研究
机译:具有严重智力障碍和小头畸形的兄弟姐妹中SLC1A4的纯合突变
机译:一种新的SLC1A4突变(P.Y191 *)导致痉挛性四叶眼,细胞质粒愈伤组织和癫痫发作性癫痫发作疾病
机译:β-肾上腺素受体阻滞剂卡维地洛在HERG N588K突变引起的短QT综合征中的作用:模拟研究
机译:纯合α地中海贫血引起的胎儿水肿:DNP案例研究项目
机译:新型SLC1A4突变(p.Y191 *)导致痉挛性四肢瘫痪Thin体薄os和进行性小头畸形(SPATCCM)伴有癫痫发作
机译:杂合的RNF13致功能变体与先天性微头,癫痫脑病,失明和失败相关