M. Corbett, M. Bahlo, and L. Jolly, A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24, The American Journal of Human Genetics, vol.87, issue.3, pp.371-375, 2010.
DOI : 10.1016/j.ajhg.2010.08.001

Z. Afawi, S. Mandelstam, and A. Korczyn, TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation, Epilepsy Research, vol.105, issue.1-2, pp.240-244, 2013.
DOI : 10.1016/j.eplepsyres.2013.02.005

A. Falace, F. Filipello, L. Padula, and V. , TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy, The American Journal of Human Genetics, vol.87, issue.3, pp.365-370, 2010.
DOI : 10.1016/j.ajhg.2010.07.020

A. Guven and A. Tolun, truncating mutation resulting in severe neurodegeneration, Journal of Medical Genetics, vol.50, issue.3, pp.199-202, 2013.
DOI : 10.1136/jmedgenet-2012-101313

M. Muona, S. Berkovic, and L. Dibbens, A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy, Nature Genetics, vol.17, issue.1, pp.39-46, 2015.
DOI : 10.1074/jbc.M111.299305

M. Milh, A. Falace, and N. Villeneuve, Cause Familial Malignant Migrating Partial Seizures of Infancy, Human Mutation, vol.53, issue.5, pp.869-872, 2013.
DOI : 10.1111/j.1528-1167.2012.03538.x

URL : https://hal.archives-ouvertes.fr/hal-01668674

P. Campeau, D. Kasperaviciute, and J. Lu, The genetic basis of DOORS syndrome: an exome-sequencing study, The Lancet Neurology, vol.13, issue.1, pp.44-58, 2014.
DOI : 10.1016/S1474-4422(13)70265-5