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Epilepsia Open|March 29, 2018
Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsyFelicitas Becker, Christopher A Reid, Kerstin Hallmann, et al.
Epilepsia|July 22, 2016
The antiepileptic medications carbamazepine and phenytoin inhibit native sodium currents in murine osteoblastsSandra J Petty, Carol J Milligan, Marian Todaro, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological conditionSlavé Petrovski, Vandana Shashi, Steven Petrou, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 5, 2002
Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsyDavid N Bowser, David A Wagner, Cynthia Czajkowski, et al.
Human Molecular Genetics|April 30, 2004
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsiesLeanne M Dibbens, Hua-Jun Feng, Michaella C Richards, et al.
Genome Biology|December 14, 2016
Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discoveryAndree Delahaye-Duriez, Prashant Srivastava, Kirill Shkura, et al.
Stem Cell Reports|June 20, 2020
In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during NeurodevelopmentFilip Rosa, Ashutosh Dhingra, Betül Uysal, et al.
Biorxiv : the Preprint Server for Biology|September 16, 2024
Brain-wide circuitry underlying altered auditory habituation in zebrafish models of autismMaya Wilde, Anahita Ghanbari, Tessa Mancienne, et al.
Nature Genetics|October 23, 2012
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsySarah E Heron, Katherine R Smith, Melanie Bahlo, 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.
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