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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
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., LeesVolume:
58
Language:
english
Journal:
Epilepsia
DOI:
10.1111/epi.13669
Date:
April, 2017
File:
PDF, 655 KB
english, 2017