Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

P.B. Mills; E.J. Footitt; K.A. Mills; K. Tuschl; S. Aylett; S. Varadkar; C. Hemingway; N. Marlow; J. Rennie; P. Baxter; O. Dulac; R. Nabbout; W.J. Craigen; B. Schmitt; F. Feillet; E. Christensen; P. de Lonlay; M.G. Pike; M.I. Hughes; E.A. Struijs; C. Jakobs; S.M. Zuberi; P.T. Clayton

doi:https://doi.org/10.1093/brain/awq143

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

P.B. Mills, E.J. Footitt, K.A. Mills, K. Tuschl, S. Aylett, S. Varadkar, C. Hemingway, N. Marlow, J. Rennie, P. Baxter, O. Dulac, R. Nabbout, W.J. Craigen, B. Schmitt, F. Feillet, E. Christensen, P. de Lonlay, M.G. Pike, M.I. Hughes, E.A. StruijsC. Jakobs, S.M. Zuberi, P.T. Clayton

Laboratory Medicine (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

199 Citations (Scopus)

Original language	English
Pages (from-to)	2148-2159
Journal	Brain
Volume	133
DOIs	https://doi.org/10.1093/brain/awq143
Publication status	Published - 2010

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https://doi.org/10.1093/brain/awq143

Cite this

Mills, P. B., Footitt, E. J., Mills, K. A., Tuschl, K., Aylett, S., Varadkar, S., Hemingway, C., Marlow, N., Rennie, J., Baxter, P., Dulac, O., Nabbout, R., Craigen, W. J., Schmitt, B., Feillet, F., Christensen, E., de Lonlay, P., Pike, M. G., Hughes, M. I., ... Clayton, P. T. (2010). Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain, 133, 2148-2159. https://doi.org/10.1093/brain/awq143

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title = "Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)",

author = "P.B. Mills and E.J. Footitt and K.A. Mills and K. Tuschl and S. Aylett and S. Varadkar and C. Hemingway and N. Marlow and J. Rennie and P. Baxter and O. Dulac and R. Nabbout and W.J. Craigen and B. Schmitt and F. Feillet and E. Christensen and {de Lonlay}, P. and M.G. Pike and M.I. Hughes and E.A. Struijs and C. Jakobs and S.M. Zuberi and P.T. Clayton",

year = "2010",

doi = "https://doi.org/10.1093/brain/awq143",

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volume = "133",

pages = "2148--2159",

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Mills, PB, Footitt, EJ, Mills, KA, Tuschl, K, Aylett, S, Varadkar, S, Hemingway, C, Marlow, N, Rennie, J, Baxter, P, Dulac, O, Nabbout, R, Craigen, WJ, Schmitt, B, Feillet, F, Christensen, E, de Lonlay, P, Pike, MG, Hughes, MI, Struijs, EA, Jakobs, C, Zuberi, SM & Clayton, PT 2010, 'Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)', Brain, vol. 133, pp. 2148-2159. https://doi.org/10.1093/brain/awq143

TY - JOUR

T1 - Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

AU - Mills, P.B.

AU - Footitt, E.J.

AU - Mills, K.A.

AU - Tuschl, K.

AU - Aylett, S.

AU - Varadkar, S.

AU - Hemingway, C.

AU - Marlow, N.

AU - Rennie, J.

AU - Baxter, P.

AU - Dulac, O.

AU - Nabbout, R.

AU - Craigen, W.J.

AU - Schmitt, B.

AU - Feillet, F.

AU - Christensen, E.

AU - de Lonlay, P.

AU - Pike, M.G.

AU - Hughes, M.I.

AU - Struijs, E.A.

AU - Jakobs, C.

AU - Zuberi, S.M.

AU - Clayton, P.T.

PY - 2010

Y1 - 2010

U2 - https://doi.org/10.1093/brain/awq143

DO - https://doi.org/10.1093/brain/awq143

M3 - Article

C2 - 20554659

SN - 0006-8950

VL - 133

SP - 2148

EP - 2159

JO - Brain

JF - Brain

ER -