Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
Epilepsia2017Vol. 58(4), pp. 565–575
Citations Over TimeTop 13% of 2017 papers
Joseph D. Symonds, Shelagh Joss, Kay Metcalfe, Suresh Somarathi, Jamie Cruden, Anita Devlin, Alan Donaldson, Nataliya Di Donato, David Fitzpatrick, Frank J. Kaiser, Anne Katrin Lampe, Melissa Lees, Ailsa McLellan, Tara Montgomery, Vivek Mundada, Lesley Nairn, Ajoy Sarkar, Jens Schallner, Jelena Pozojevic, Ilaria Parenti, Jeen Tan, Peter D. Turnpenny, William Whitehouse, The DDD Study, Sameer M. Zuberi
Abstract
Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. These mutations are likely to be nonviable in males.
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