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Wan, J, Steffen, J, Yourshaw, M, Mamsa, H, Andersen, E, Rudnik-Schöneborn, S, Pope, K, Howell, KB, McLean, CA, Kornberg, AJ, et al.
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia..
Brain
139(11)
:
2877 -2890
2016
view publication
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Leong, O, Andersen, E, Yiu, EM, Green, D, Mackay, MT, Elder, JE, Howell, KB.
Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.
Journal of Paediatrics and Child Health
52(8)
:
842 -846
2016
view publication
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Balestrini, S, Milh, M, Castiglioni, C, Lüthy, K, Finelli, MJ, Verstreken, P, Cardon, A, Straišar, BG, Holder, JL, Lesca, G, et al.
TBC1D24 genotype–phenotype correlation.
Neurology
87(1)
:
77 -85
2016
view publication
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McTague, A, Howell, KB, Cross, JH, Kurian, MA, Scheffer, IE.
The genetic landscape of the epileptic encephalopathies of infancy and childhood.
The Lancet Neurology
15(3)
:
304 -316
2016
view publication
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Howell, KB, Harvey, AS, Archer, JS.
Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept.
Epilepsia
57(3)
:
343 -347
2016
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