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Human Molecular Genetics|February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributionsTimothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Annals of Neurology|April 10, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variantNicolas Chatron, Rikke S Møller, Neena L Champaigne, et al.
Epilepsia|April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosisCarla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.
Annals of Neurology|March 28, 2020
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation LoadPiero Perucca, Alison Anderson, Dana Jazayeri, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Neurology|May 11, 2016
Definition and diagnostic criteria of sleep-related hypermotor epilepsyPaolo Tinuper, Francesca Bisulli, J H Cross, et al.
Epilepsia|March 17, 2022
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetamCiarán Campbell, Mark McCormack, Sonn Patel, et al.
Neurology|September 2, 2018
The phenotype of SCN8A developmental and epileptic encephalopathyElena Gardella, Carla Marini, Marina Trivisano, et al.
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