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Epilepsia|June 29, 2012
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autismGaetan Lesca, Gabrielle Rudolf, Audrey Labalme, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2008
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patientsCyril Gitiaux, Emmanuel Roze, Kiyoka Kinugawa, et al.Epilepsia|December 31, 2013
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2Sarra Dimassi, Audrey Labalme, Gaetan Lesca, et al.Epilepsia|February 13, 2008
The three stages of epilepsy in patients with CDKL5 mutationsNadia Bahi-Buisson, Anna Kaminska, Nathalie Boddaert, et al.Human Molecular Genetics|April 26, 2013
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowthLionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, et al.Neurology|October 19, 2012
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraineRobin Cloarec, Nadine Bruneau, Gabrielle Rudolf, et al.Human Mutation|February 24, 2009
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndromeLoïc de Pontual, Yves Mathieu, Christelle Golzio, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.Nature Genetics|August 13, 2013
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunctionGaetan Lesca, Gabrielle Rudolf, Nadine Bruneau, et al.European Journal of Human Genetics : EJHG|October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsCamille Leroy, Emilie Landais, Sylvain Briault, et al.Pageof 5