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Page 1
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Among authors: howell kb. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
Long-term follow-up of febrile infection-related epilepsy syndrome.
Howell KB, Katanyuwong K, Mackay MT, Bailey CA, Scheffer IE, Freeman JL, Berkovic SF, Harvey AS. Howell KB, et al. Epilepsia. 2012 Jan;53(1):101-10. doi: 10.1111/j.1528-1167.2011.03350.x. Epub 2011 Dec 22. Epilepsia. 2012. PMID: 22191582 Free article.
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: howell kb. Nat Genet. 2013 Jul;45(7):825-30. doi: 10.1038/ng.2646. Epub 2013 May 26. Nat Genet. 2013. PMID: 23708187 Free PMC article.
High resolution chromosomal microarray in undiagnosed neurological disorders.
Howell KB, Kornberg AJ, Harvey AS, Ryan MM, Mackay MT, Freeman JL, Rodriguez Casero MV, Collins KJ, Hayman M, Mohamed A, Ware TL, Clark D, Bruno DL, Burgess T, Slater H, McGillivray G, Leventer RJ. Howell KB, et al. J Paediatr Child Health. 2013 Sep;49(9):716-24. doi: 10.1111/jpc.12256. Epub 2013 Jun 3. J Paediatr Child Health. 2013. PMID: 23731025 Clinical Trial.
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. Howell KB, et al. Neurology. 2015 Sep 15;85(11):958-66. doi: 10.1212/WNL.0000000000001926. Epub 2015 Aug 19. Neurology. 2015. PMID: 26291284 Free PMC article.
Epileptic spasms are a feature of DEPDC5 mTORopathy.
Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: howell kb. Neurol Genet. 2015 Jul 23;1(2):e17. doi: 10.1212/NXG.0000000000000016. eCollection 2015 Aug. Neurol Genet. 2015. PMID: 27066554 Free PMC article.
63 results