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Neurology|April 1, 2016
A targeted resequencing gene panel for focal epilepsyMichael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
The Journal of Clinical Investigation|July 15, 2010
Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plusVerena C Wimmer, Christopher A Reid, Suzanne Mitchell, et al.
The Journal of Clinical Investigation|December 1, 2021
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy modelMelody Li, Nikola Jancovski, Paymaan Jafar-Nejad, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
Brain : a Journal of Neurology|October 6, 2006
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutationsIngrid E Scheffer, Louise A Harkin, Bronwyn E Grinton, et al.
Epilepsia|March 26, 2018
A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsyTalia A Atkin, Chani M Maher, Aaron C Gerlach, et al.
Neurology. Genetics|December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severitySasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Annals of Neurology|March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineCarol J Milligan, Melody Li, Elena V Gazina, et al.
Human Mutation|October 25, 2017
Gain-of-function HCN2 variants in genetic epilepsyMelody Li, Snezana Maljevic, A Marie Phillips, et al.
Nature Medicine|April 22, 2025
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathyMatias Wagner, Géza Berecki, Walid Fazeli, et al.
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