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Neurology|January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related EpilepsiesAndreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.Nature Genetics|August 13, 2013
GRIN2A mutations cause epilepsy-aphasia spectrum disordersGemma L Carvill, Brigid M Regan, Simone C Yendle, et al.Neurology|May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.Annals of Clinical and Translational Neurology|September 5, 2015
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsyMichael S Hildebrand, Rick Tankard, Elena V Gazina, et al.Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.Human Molecular Genetics|June 19, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva M Reinthaler, Dennis Lal, Sebastien Lebon, et al.Nature Genetics|April 2, 2013
Mutations in DEPDC5 cause familial focal epilepsy with variable fociLeanne M Dibbens, Boukje de Vries, Simona Donatello, et al.Pageof 3