Matthew Zemel

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Gemma L. Carvill, Jacinta M. McMahon, Amy Schneider et al. · The American Journal of Human Genetics · 2015 · 221 citations · Full text

Neurobiology Of Disease, Molecular Neuroscience, Neurophysiology +9

Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy

Gemma L. Carvill, Douglas E. Crompton, Brigid M. Regan et al. · Neurology Genetics · 2015 · 73 citations · Full text

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i>

Gemma L. Carvill, Aijie Liu, Simone Mandelstam et al. · Epilepsia · 2017 · 59 citations · Full text

Brain Development, Neurological Disorder, Genetics +16

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

Borislav Dejanovic, Tania Djémié, Nora Grünewald et al. · EMBO Molecular Medicine · 2015 · 50 citations · Full text

Intragenic deletions of <i>ALDH7A1</i> in pyridoxine-dependent epilepsy caused by <i>Alu</i> - <i>Alu</i> recombination

Heather C. Mefford, Matthew Zemel, Eileen Geraghty et al. · Neurology · 2015 · 34 citations · Full text