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Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Amiel J, et al. Among authors: plouin p. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436254 Free PMC article.
Epilepsy associated with shaken baby syndrome.
Bourgeois M, Di Rocco F, Garnett M, Charron B, Boddaert N, Soufflet C, Roujeau T, Zerah M, Sainte-Rose C, Plouin P, Renier D. Bourgeois M, et al. Among authors: plouin p. Childs Nerv Syst. 2008 Feb;24(2):169-72; discussion 173. doi: 10.1007/s00381-007-0493-4. Epub 2007 Nov 20. Childs Nerv Syst. 2008. PMID: 18026964
The three stages of epilepsy in patients with CDKL5 mutations.
Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T. Bahi-Buisson N, et al. Among authors: plouin p. Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7. Epilepsia. 2008. PMID: 18266744 Free article.
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N. Leger PL, et al. Among authors: plouin p. Neurogenetics. 2008 Oct;9(4):277-85. doi: 10.1007/s10048-008-0141-5. Epub 2008 Aug 7. Neurogenetics. 2008. PMID: 18685874
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, Héron D, Verloes A, Zuberi S, Burglen L, Afenjar A, Moutard ML, Edery P, Novelli A, Bernardini L, Dulac O, Nabbout R, Plouin P, Battaglia A. Bahi-Buisson N, et al. Among authors: plouin p. Epilepsia. 2008 Mar;49(3):509-15. doi: 10.1111/j.1528-1167.2007.01424.x. Epub 2007 Nov 21. Epilepsia. 2008. PMID: 18031548 Free article.
580 results