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Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
American Journal of Human Genetics|November 4, 2008
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndromeAlexander G Bassuk, Robyn H Wallace, Aimee Buhr, et al.
Neurology|January 24, 2016
Multiplex families with epilepsy: Success of clinical and molecular genetic characterizationZaid Afawi, Karen L Oliver, Sara Kivity, et al.
Nature Genetics|May 13, 2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLeanne M Dibbens, Patrick S Tarpey, Kim Hynes, et al.
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