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American Journal of Human Genetics|August 28, 2010
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Mark A Corbett, Melanie Bahlo, Lachlan Jolly, et al.
Neurology|August 11, 2017
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotypeLynette G Sadleir, Emily I Mountier, Deepak Gill, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|October 11, 2024
Early mortality in STXBP1-related disordersFrancesca Furia, Charlene Son Rigby, Ingrid E Scheffer, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 20, 2007
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsyHeneu O Tan, Christopher A Reid, Frank N Single, et al.
Neurology. Clinical Practice|November 26, 2021
Association Between Psychiatric Comorbidities and Mortality in EpilepsyGerard Tao, Clarissa Auvrez, Russell Nightscales, et al.
Epilepsy Research|September 17, 2023
Neuropsychological function in psychosis of epilepsyJames Allebone, Richard A Kanaan, Genevieve Rayner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, 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.
JAMA Neurology|May 1, 2023
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe EpilepsySattar Khoshkhoo, Yilan Wang, Yasmine Chahine, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
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