Literature DB >> 32648047

A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy.

Hongjun Fang1, Xi Zhang2, Bo Xiao2, Lily Zhang3, Hongyu Long4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2020        PMID： 32648047     DOI： 10.1007/s10072-020-04559-3

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


× No keyword cloud information.
  3 in total

1.  The use of medical grade cannabis in Italy for drug-resistant epilepsy: a case series.

Authors:  Chiara Pane; Francesco Saccà
Journal:  Neurol Sci       Date:  2019-11-27       Impact factor: 3.307

2.  Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Authors:  Kathleen M Gorman; Eva Forman; Judith Conroy; Nicholas M Allen; Amre Shahwan; Sally A Lynch; Sean Ennis; Mary D King
Journal:  Epilepsia       Date:  2017-07       Impact factor: 5.864

3.  Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Authors:  Joseph D Symonds; Shelagh Joss; Kay A Metcalfe; Suresh Somarathi; Jamie Cruden; Anita M Devlin; Alan Donaldson; Nataliya DiDonato; David Fitzpatrick; Frank J Kaiser; Anne K Lampe; Melissa M Lees; Ailsa McLellan; Tara Montgomery; Vivek Mundada; Lesley Nairn; Ajoy Sarkar; Jens Schallner; Jelena Pozojevic; Ilaria Parenti; Jeen Tan; Peter Turnpenny; William P Whitehouse; Sameer M Zuberi
Journal:  Epilepsia       Date:  2017-02-06       Impact factor: 5.864
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.