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Howell, KB, McMahon, JM, Carvill, GL, Tambunan, D, Mackay, MT, Rodriguez-Casero, V, Webster, R, Clark, D, Freeman, JL, Calvert, S, et al.
SCN2A encephalopathy.
Neurology
85(11)
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958 -966
2015
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D’Arcy, C, Kanellakis, V, Forbes, R, Wilding, B, McGrath, M, Howell, K, Ryan, M, McLean, C.
X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
Journal of Child Neurology
30(9)
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1211 -1217
2015
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Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, et al.
Epileptic spasms are a feature of DEPDC5 mTORopathy.
Neurology Genetics
1(2)
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&na
2015
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Marques, I, Sá, MJ, Soares, G, do Céu Mota, M, Pinheiro, C, Aguiar, L, Amado, M, Soares, C, Calado, A, Dias, P, et al.
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
Molecular Genetics & Genomic Medicine
3(3)
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203 -214
2015
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Ware, TL, Earl, J, Salomons, GS, Struys, EA, Peters, HL, Howell, KB, Pitt, JJ, Freeman, JL.
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
Developmental Medicine & Child Neurology
56(5)
:
498 -502
2014
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