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Genetics in Medicine Open|December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartomaTimothy E Green, Mark F Bennett, Ilka Immisch, et al.
Epilepsia|April 20, 2022
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndromePasquale Striano, Stéphane Auvin, Abigail Collins, et al.
Neurology|August 10, 2014
Genetics of epilepsy: The testimony of twins in the molecular eraLata Vadlamudi, Roger L Milne, Kate Lawrence, et al.
Epilepsy Research|October 1, 2015
Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsyJohn A Damiano, Saul A Mullen, Michael S Hildebrand, et al.
Neurology. Genetics|January 31, 2022
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and EpilepsyMark F Bennett, Michael S Hildebrand, Sayaka Kayumi, et al.
Epilepsia|March 12, 2025
Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndromeIngrid E Scheffer, Rima Nabbout, Lieven Lagae, et al.
EMBO Reports|March 27, 2014
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formationMartin Puskarjov, Patricia Seja, Sarah E Heron, et al.
Epilepsy Research|November 5, 2016
Mortality in Dravet syndromeMonica S Cooper, Anne Mcintosh, Douglas E Crompton, et al.
Molecular Pharmacology|May 6, 2008
Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel poreJean-Charles Hoda, Wenli Gu, Marc Friedli, et al.
European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.
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