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Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M, Pinares-Garcia P, Stephenson SE, Lee WS, Kooshavar D, Mclean CA, Howell KB, Leventer RJ, Reid CA, Lockhart PJ. Coleman M, et al. Among authors: howell kb. Neurol Genet. 2024 Mar 11;10(2):e200135. doi: 10.1212/NXG.0000000000200135. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38496361 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.
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.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC. Wan J, et al. Among authors: howell kb. Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212. Brain. 2016. PMID: 27543974 Free PMC article.
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.
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
Ware TL, Huskins SR, Grinton BE, Liu YC, Bennett MF, Harvey M, McMahon J, Andreopoulos-Malikotsinas D, Bahlo M, Howell KB, Hildebrand MS, Damiano JA, Rosenfeld A, Mackay MT, Mandelstam S, Leventer RJ, Harvey AS, Freeman JL, Scheffer IE, Jones DL, Berkovic SF. Ware TL, et al. Among authors: howell kb. Epilepsia Open. 2019 Jul 22;4(3):504-510. doi: 10.1002/epi4.12350. eCollection 2019 Sep. Epilepsia Open. 2019. PMID: 31440733 Free PMC article.
Parental health spillover effects of paediatric rare genetic conditions.
Wu Y, Al-Janabi H, Mallett A, Quinlan C, Scheffer IE, Howell KB, Christodoulou J, Leventer RJ, Lockhart PJ, Stark Z, Boughtwood T, Goranitis I. Wu Y, et al. Among authors: howell kb. Qual Life Res. 2020 Sep;29(9):2445-2454. doi: 10.1007/s11136-020-02497-3. Epub 2020 Apr 7. Qual Life Res. 2020. PMID: 32266555
60 results