Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

Gaetan Lesca; Nadia Boutry-Kryza; Bertrand de Toffol; Mathieu Milh; Dominique Steschenko; Martine Lemesle-Martin; Louis Maillard; Giovanni Foletti; Gabrielle Rudolf; Jørgen Erik Nielsen; Bjarke á Rogvi-Hansen; Jesper Erdal; Josette Mancini; Christel Thauvin-Robinet; Amel M'Rrabet; Dorothée Ville; Pierre Szepetowski; Emmanuel Raffo; Edouard Hirsch; Philippe Ryvlin; Alain Calender; Pierre Genton

doi:10.1111/j.1528-1167.2010.02692.x

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

Gaetan Lesca, Nadia Boutry-Kryza, Bertrand de Toffol, Mathieu Milh, Dominique Steschenko, Martine Lemesle-Martin, Louis Maillard, Giovanni Foletti, Gabrielle Rudolf, Jørgen Erik Nielsen, Bjarke á Rogvi-Hansen, Jesper Erdal, Josette Mancini, Christel Thauvin-Robinet, Amel M'Rrabet, Dorothée Ville, Pierre Szepetowski, Emmanuel Raffo, Edouard Hirsch, Philippe RyvlinAlain Calender, Pierre Genton

Afdeling for Hjerne- og Nervesygdomme

38 Citationer (Scopus)

Abstract

Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.

Originalsprog	Engelsk
Tidsskrift	Epilepsia
Vol/bind	51
Udgave nummer	9
Sider (fra-til)	1691-8
Antal sider	8
ISSN	0013-9580
DOI	https://doi.org/10.1111/j.1528-1167.2010.02692.x
Status	Udgivet - 1 sep. 2010

Adgang til dokumentet

10.1111/j.1528-1167.2010.02692.x

Citationsformater

Lesca, G., Boutry-Kryza, N., de Toffol, B., Milh, M., Steschenko, D., Lemesle-Martin, M., Maillard, L., Foletti, G., Rudolf, G., Nielsen, J. E., á Rogvi-Hansen, B., Erdal, J., Mancini, J., Thauvin-Robinet, C., M'Rrabet, A., Ville, D., Szepetowski, P., Raffo, E., Hirsch, E., ... Genton, P. (2010). Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease. Epilepsia, 51(9), 1691-8. https://doi.org/10.1111/j.1528-1167.2010.02692.x

Lesca, G, Boutry-Kryza, N, de Toffol, B, Milh, M, Steschenko, D, Lemesle-Martin, M, Maillard, L, Foletti, G, Rudolf, G, Nielsen, JE, á Rogvi-Hansen, B, Erdal, J, Mancini, J, Thauvin-Robinet, C, M'Rrabet, A, Ville, D, Szepetowski, P, Raffo, E, Hirsch, E, Ryvlin, P, Calender, A & Genton, P 2010, 'Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease', Epilepsia, bind 51, nr. 9, s. 1691-8. https://doi.org/10.1111/j.1528-1167.2010.02692.x

@article{db0480e581e0477cb9e9c8dc6fd6518c,

title = "Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease",

abstract = "Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.",

author = "Gaetan Lesca and Nadia Boutry-Kryza and {de Toffol}, Bertrand and Mathieu Milh and Dominique Steschenko and Martine Lemesle-Martin and Louis Maillard and Giovanni Foletti and Gabrielle Rudolf and Nielsen, {J{\o}rgen Erik} and {{\'a} Rogvi-Hansen}, Bjarke and Jesper Erdal and Josette Mancini and Christel Thauvin-Robinet and Amel M'Rrabet and Doroth{\'e}e Ville and Pierre Szepetowski and Emmanuel Raffo and Edouard Hirsch and Philippe Ryvlin and Alain Calender and Pierre Genton",

year = "2010",

month = sep,

day = "1",

doi = "10.1111/j.1528-1167.2010.02692.x",

language = "English",

volume = "51",

pages = "1691--8",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley-Blackwell",

number = "9",

}

TY - JOUR

T1 - Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

AU - Lesca, Gaetan

AU - Boutry-Kryza, Nadia

AU - de Toffol, Bertrand

AU - Milh, Mathieu

AU - Steschenko, Dominique

AU - Lemesle-Martin, Martine

AU - Maillard, Louis

AU - Foletti, Giovanni

AU - Rudolf, Gabrielle

AU - Nielsen, Jørgen Erik

AU - á Rogvi-Hansen, Bjarke

AU - Erdal, Jesper

AU - Mancini, Josette

AU - Thauvin-Robinet, Christel

AU - M'Rrabet, Amel

AU - Ville, Dorothée

AU - Szepetowski, Pierre

AU - Raffo, Emmanuel

AU - Hirsch, Edouard

AU - Ryvlin, Philippe

AU - Calender, Alain

AU - Genton, Pierre

PY - 2010/9/1

Y1 - 2010/9/1

N2 - Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.

AB - Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.

U2 - 10.1111/j.1528-1167.2010.02692.x

DO - 10.1111/j.1528-1167.2010.02692.x

M3 - Journal article

C2 - 20738377

SN - 0013-9580

VL - 51

SP - 1691

EP - 1698

JO - Epilepsia

JF - Epilepsia

IS - 9

ER -

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater