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

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

OBJECTIVE: The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to females, and males with mosaicism. The SMC1A gene, which en...

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Main Authors: Symonds, Joseph D., Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees, Melissa M., McLellan, Ailsa, Montgomery, Tara, Mundada, Vivek, Nairn, Lesley, Sarkar, Ajoy, Schallner, Jens, Pozojevic, J.elena, Parenti, Ilaria, Tan, Jeen, Turnpenny, Peter, Whitehouse, William P., Zuberi, Sameer M.
Format: Article
Published: Wiley 2017
Online Access:https://eprints.nottingham.ac.uk/51339/

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