Literature DB >> 28677859

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

Kathleen M Gorman1, Eva Forman1, Judith Conroy2, Nicholas M Allen3, Amre Shahwan1, Sally A Lynch2,4, Sean Ennis2, Mary D King1,2.   

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Year:  2017        PMID： 28677859     DOI： 10.1111/epi.13794

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  5 in total

1.  The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Authors:  Rosemary Burgess; Shuyu Wang; Amy McTague; Katja E Boysen; Xiaoling Yang; Qi Zeng; Kenneth A Myers; Anne Rochtus; Marina Trivisano; Deepak Gill; Lynette G Sadleir; Nicola Specchio; Renzo Guerrini; Carla Marini; Yue-Hua Zhang; Heather C Mefford; Manju A Kurian; Annapurna H Poduri; Ingrid E Scheffer
Journal:  Ann Neurol       Date:  2019-12       Impact factor: 10.422

2.  Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A.

Authors:  Menatalla Elwan; Ross Fowkes; David Lewis-Smith; Amy Winder; Mark R Baker; Rhys H Thomas
Journal:  Epilepsy Behav Rep       Date:  2022-06-02

3.  Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

Authors:  Tiong Yang Tan; Jiří Sedmík; Mark P Fitzgerald; Rivka Sukenik Halevy; Liam P Keegan; Ingo Helbig; Lina Basel-Salmon; Lior Cohen; Rachel Straussberg; Wendy K Chung; Mayada Helal; Reza Maroofian; Henry Houlden; Jane Juusola; Simon Sadedin; Lynn Pais; Katherine B Howell; Susan M White; John Christodoulou; Mary A O'Connell
Journal:  Am J Hum Genet       Date:  2020-03-26       Impact factor: 11.025

Review 4.  The multiple facets of the SMC1A gene.

Authors:  Antonio Musio
Journal:  Gene       Date:  2020-03-25       Impact factor: 3.688

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

Authors:  Hongjun Fang; Xi Zhang; Bo Xiao; Lily Zhang; Hongyu Long
Journal:  Neurol Sci       Date:  2020-07-10       Impact factor: 3.307
  5 in total

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