Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations

Epileptic Syndromes in Infancy, Childhood and Adolescence

John B.P. Stephenson · European Journal of Paediatric Neurology · 2004 · 685 citations

Medicine, Neuroscience, Pediatrics +12

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula et al. · The American Journal of Human Genetics · 2010 · 157 citations · Full text

Medicine, Genetics, Molecular Genetics +14

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark Corbett, Melanie Bahlo, Lachlan A. Jolly et al. · The American Journal of Human Genetics · 2010 · 118 citations · Full text

Life Sciences, Genetics, Neurology +14

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

Antonio Falace, Emmanuelle Buhler, Manuela Fadda et al. · Proceedings of the National Academy of Sciences · 2014 · 96 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +16