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A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.
Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C, Soufflet C, Desguerre I, Munnich A, Dulac O. Cormier-Daire V, et al. Among authors: dulac o. Am J Hum Genet. 2000 Oct;67(4):991-3. doi: 10.1086/303087. Epub 2000 Sep 7. Am J Hum Genet. 2000. PMID: 10978228 Free PMC article.
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern.
Nabbout R, Soufflet C, Plouin P, Dulac O. Nabbout R, et al. Among authors: dulac o. Arch Dis Child Fetal Neonatal Ed. 1999 Sep;81(2):F125-9. doi: 10.1136/fn.81.2.f125. Arch Dis Child Fetal Neonatal Ed. 1999. PMID: 10448181 Free PMC article.
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
des Portes V, Pinard JM, Smadja D, Motte J, Boespflüg-Tanguy O, Moutard ML, Desguerre I, Billuart P, Carrie A, Bienvenu T, Vinet MC, Bachner L, Beldjord C, Dulac O, Kahn A, Ponsot G, Chelly J. des Portes V, et al. Among authors: dulac o. J Med Genet. 1997 Mar;34(3):177-83. doi: 10.1136/jmg.34.3.177. J Med Genet. 1997. PMID: 9132485 Free PMC article.
The management of infantile spasms.
Desguerre I, Nabbout R, Dulac O. Desguerre I, et al. Among authors: dulac o. Arch Dis Child. 2008 Jun;93(6):462-3. doi: 10.1136/adc.2006.108803. Epub 2008 Jan 11. Arch Dis Child. 2008. PMID: 18192314 No abstract available.
Epileptic syndromes in infancy and childhood.
Nabbout R, Dulac O. Nabbout R, et al. Among authors: dulac o. Curr Opin Neurol. 2008 Apr;21(2):161-6. doi: 10.1097/WCO.0b013e3282f7007e. Curr Opin Neurol. 2008. PMID: 18317274 Review.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Zhang X, et al. Among authors: dulac o. Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20. Am J Hum Genet. 2014. PMID: 24656866 Free PMC article.
Epileptic encephalopathies: a brief overview.
Nabbout R, Dulac O. Nabbout R, et al. Among authors: dulac o. J Clin Neurophysiol. 2003 Nov-Dec;20(6):393-7. doi: 10.1097/00004691-200311000-00002. J Clin Neurophysiol. 2003. PMID: 14734929 Review.
390 results