NBEA: Developmental disease gene with early generalized epilepsy phenotypes

doi:10.1002/ana.25350

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

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Abstract

NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803.

Original language	English
Pages (from-to)	788-795
Number of pages	8
Journal	Annals of Neurology
Volume	84
Issue number	5
DOIs	https://doi.org/10.1002/ana.25350
Publication status	Published - Nov 2018

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10.1002/ana.25350

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@article{f0c8ea300dfa4b4aabb166854740fbfc,

title = "NBEA: Developmental disease gene with early generalized epilepsy phenotypes",

abstract = "NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803.",

author = "Mulhern, {Maureen S} and Constance Stumpel and Nicholas Stong and Brunner, {Han G} and Louise Bier and Natalie Lippa and James Riviello and Rouhl, {Rob P W} and Marlies Kempers and Rolph Pfundt and Stegmann, {Alexander P A} and Kukolich, {Mary K} and Aida Telegrafi and Anna Lehman and Elena Lopez-Rangel and Nada Houcinat and Magalie Barth and {den Hollander}, Nicolette and Hoffer, {Mariette J V} and Sarah Weckhuysen and Jolien Roovers and Tania Djemie and Diana Barca and Berten Ceulemans and Dana Craiu and Lemke, {Johannes R} and Christian Korff and Mefford, {Heather C} and Meyers, {Candace T} and Zsuzsanna Siegler and Hiatt, {Susan M} and Cooper, {Gregory M} and Bebin, {E Martina} and {Snijders Blok}, Lot and Veenstra-Knol, {Hermine E} and Baugh, {Evan H} and Brilstra, {Eva H} and Volker-Touw, {Catharina M L} and {van Binsbergen}, Ellen and Anya Revah-Politi and Elaine Pereira and Danielle McBrian and Mathilde Pacault and Bertrand Isidor and {Le Caignec}, Cedric and Brigitte Gilbert-Dussardier and Frederic Bilan and Heinzen, {Erin L} and Goldstein, {David B} and Stevens, {Servi J C}",

note = "Publisher Copyright: {\textcopyright} 2018 American Neurological Association",

year = "2018",

month = nov,

doi = "10.1002/ana.25350",

language = "English",

volume = "84",

pages = "788--795",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley & Sons Inc.",

number = "5",

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TY - JOUR

T1 - NBEA

T2 - Developmental disease gene with early generalized epilepsy phenotypes

AU - Mulhern, Maureen S

AU - Stumpel, Constance

AU - Stong, Nicholas

AU - Brunner, Han G

AU - Bier, Louise

AU - Lippa, Natalie

AU - Riviello, James

AU - Rouhl, Rob P W

AU - Kempers, Marlies

AU - Pfundt, Rolph

AU - Stegmann, Alexander P A

AU - Kukolich, Mary K

AU - Telegrafi, Aida

AU - Lehman, Anna

AU - Lopez-Rangel, Elena

AU - Houcinat, Nada

AU - Barth, Magalie

AU - den Hollander, Nicolette

AU - Hoffer, Mariette J V

AU - Weckhuysen, Sarah

AU - Roovers, Jolien

AU - Djemie, Tania

AU - Barca, Diana

AU - Ceulemans, Berten

AU - Craiu, Dana

AU - Lemke, Johannes R

AU - Korff, Christian

AU - Mefford, Heather C

AU - Meyers, Candace T

AU - Siegler, Zsuzsanna

AU - Hiatt, Susan M

AU - Cooper, Gregory M

AU - Bebin, E Martina

AU - Snijders Blok, Lot

AU - Veenstra-Knol, Hermine E

AU - Baugh, Evan H

AU - Brilstra, Eva H

AU - Volker-Touw, Catharina M L

AU - van Binsbergen, Ellen

AU - Revah-Politi, Anya

AU - Pereira, Elaine

AU - McBrian, Danielle

AU - Pacault, Mathilde

AU - Isidor, Bertrand

AU - Le Caignec, Cedric

AU - Gilbert-Dussardier, Brigitte

AU - Bilan, Frederic

AU - Heinzen, Erin L

AU - Goldstein, David B

AU - Stevens, Servi J C

PY - 2018/11

Y1 - 2018/11

N2 - NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803.

AB - NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients. Ann Neurol 2018;84:796-803.

U2 - 10.1002/ana.25350

DO - 10.1002/ana.25350

M3 - Article

C2 - 30269351

SN - 0364-5134

VL - 84

SP - 788

EP - 795

JO - Annals of Neurology

JF - Annals of Neurology

IS - 5

ER -

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

Abstract

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