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Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ. Lee WS, et al. Among authors: howell kb. Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17. Ann Clin Transl Neurol. 2019. PMID: 31353856 Free PMC 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.
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Marques I, Sá MJ, Soares G, Mota Mdo C, Pinheiro C, Aguiar L, Amado M, Soares C, Calado A, Dias P, Sousa AB, Fortuna AM, Santos R, Howell KB, Ryan MM, Leventer RJ, Sachdev R, Catford R, Friend K, Mattiske TR, Shoubridge C, Jorge P. Marques I, et al. Among authors: howell kb. Mol Genet Genomic Med. 2015 May;3(3):203-14. doi: 10.1002/mgg3.133. Epub 2015 Feb 25. Mol Genet Genomic Med. 2015. PMID: 26029707 Free PMC article.
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.
67 results