Kameryn M. Butler

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy

Kameryn M. Butler, Olivia A. Moody, Elisabeth Schuler et al. · Brain · 2018 · 113 citations · Full text

Molecular Neuroscience, Neurobiology Of Disease, G Protein-coupled Receptor +15

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel

Kameryn M. Butler, Cristina da Silva, John Alexander et al. · Pediatric Neurology · 2017 · 103 citations

Medicine, Genetics, Genetic Epidemiology +10

<i><scp>SLC</scp>6A1</i>variants identified in epilepsy patients reduce γ‐aminobutyric acid transport

Kari A. Mattison, Kameryn M. Butler, George Andrew S. Inglis et al. · Epilepsia · 2018 · 54 citations · Full text

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

Kameryn M. Butler, Cristina da Silva, Yuval Shafir et al. · Epilepsy Research · 2016 · 40 citations · Full text

Neurogenomics, Genetic Disorder, Genetics +7

<i>ATP6V0C</i> variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Kari A. Mattison, Gilles Tossing, Fred Mulroe et al. · Brain · 2022 · 27 citations · Full text

Atp6v0a Subunits, Brain Development, Genetics +18