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Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood.
Abel L, Plancoulaine S, Jouanguy E, Zhang SY, Mahfoufi N, Nicolas N, Sancho-Shimizu V, Alcaïs A, Guo Y, Cardon A, Boucherit S, Obach D, Clozel T, Lorenzo L, Amsallem D, Berquin P, Blanc T, Bost-Bru C, Chabrier S, Chabrol B, Cheuret E, Dulac O, Evrard P, Héron B, Lazaro L, Mancini J, Pedespan JM, Rivier F, Vallée L, Lebon P, Rozenberg F, Casanova JL, Tardieu M. Abel L, et al. Among authors: berquin p. J Pediatr. 2010 Oct;157(4):623-9, 629.e1. doi: 10.1016/j.jpeds.2010.04.020. Epub 2010 May 31. J Pediatr. 2010. PMID: 20553844
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.
Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Hélias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E. Depienne C, et al. Among authors: berquin p. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. PLoS Genet. 2009. PMID: 19214208 Free PMC article.
[Benign infantile convulsions. French collaborative study].
Gautier A, Pouplard F, Bednarek N, Motte J, Berquin P, Billard C, Boidein F, Boulloche J, Dulac O, Echenne B, Humbertclaude V. Gautier A, et al. Among authors: berquin p. Arch Pediatr. 1999 Jan;6(1):32-9. doi: 10.1016/s0929-693x(99)80070-0. Arch Pediatr. 1999. PMID: 9974093 French.
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, Peudenier S, Cormier-Daire V, Berquin P, Chrétien D, Rötig A, Saudubray JM, Baraton J, Brunelle F, Rustin P, Van Der Knaap M, Munnich A. de Lonlay-Debeney P, et al. Among authors: berquin p. J Pediatr. 2000 Feb;136(2):209-14. doi: 10.1016/s0022-3476(00)70103-x. J Pediatr. 2000. PMID: 10657827
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: berquin p. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L. Gerber S, et al. Among authors: berquin p. Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108797 Free PMC article.
[Infratentorial ischemic stroke in children: Three case reports].
Ouattara-Doumbia M, Le Moing AG, Bourel-Ponchel E, Delignières A, Schauvliege J, de Broca A, Chabrol B, Berquin P. Ouattara-Doumbia M, et al. Among authors: berquin p. Arch Pediatr. 2011 May;18(5):544-9. doi: 10.1016/j.arcped.2011.02.020. Epub 2011 Apr 1. Arch Pediatr. 2011. PMID: 21458968 French.
ADHD in childhood epilepsy: Clinical determinants of severity and of the response to methylphenidate.
Rheims S, Herbillon V, Villeneuve N, Auvin S, Napuri S, Cances C, Berquin P, Castelneau P, Nguyen The Tich S, Villega F, Isnard H, Nabbout R, Gaillard S, Mercier C, Kassai B, Arzimanoglou A; investigators of the Paediatric Epilepsy REsearch NEtwork (PERENE). Rheims S, et al. Among authors: berquin p. Epilepsia. 2016 Jul;57(7):1069-77. doi: 10.1111/epi.13420. Epub 2016 May 29. Epilepsia. 2016. PMID: 27237724 Free article.
[Familial and non-familial benign infantile seizures: A homogeneous entity?].
Bourel-Ponchel E, Le Moing AG, Delignières A, De Broca A, Wallois F, Berquin P. Bourel-Ponchel E, et al. Among authors: berquin p. Rev Neurol (Paris). 2011 Aug-Sep;167(8-9):592-9. doi: 10.1016/j.neurol.2011.01.005. Epub 2011 May 17. Rev Neurol (Paris). 2011. PMID: 21592539 French.
87 results