NBEA: Developmental disease gene with early generalized epilepsy phenotypes

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

doi:10.1002/ana.25350

NBEA: Developmental disease gene with early generalized epilepsy phenotypes

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

^*Corresponding author for this work

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

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

Keywords

DE-NOVO MUTATIONS
NEUROBEACHIN
AUTISM
FRAMEWORK
SPECTRUM
DELETION
PATIENT

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10.1002/ana.25350

Cite this

Mulhern, M. S., Stumpel, C., Stong, N., Brunner, H. G., Bier, L., Lippa, N., Riviello, J., Rouhl, R. P. W., Kempers, M., Pfundt, R., Stegmann, A. P. A., Kukolich, M. K., Telegrafi, A., Lehman, A., Lopez-Rangel, E., Houcinat, N., Barth, M., den Hollander, N., Hoffer, M. J. V., ... Sands, T. T. (2018). NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Annals of Neurology, 84(5), 788-795. https://doi.org/10.1002/ana.25350

@article{0b0b05d81a924e28a5bac59644f490b7,

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",

keywords = "DE-NOVO MUTATIONS, NEUROBEACHIN, AUTISM, FRAMEWORK, SPECTRUM, DELETION, PATIENT",

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.} and {CAUSES Study} and {EuroEPINOMICS‐RES‐MAE working group} and Sands, {Tristan T.}",

year = "2018",

month = nov,

doi = "10.1002/ana.25350",

language = "English",

volume = "84",

pages = "788--795",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "Wiley",

number = "5",

}

Mulhern, MS, Stumpel, C, Stong, N, Brunner, HG, Bier, L, Lippa, N, Riviello, J, Rouhl, RPW, Kempers, M, Pfundt, R, Stegmann, APA, Kukolich, MK, Telegrafi, A, Lehman, A, Lopez-Rangel, E, Houcinat, N, Barth, M, den Hollander, N, Hoffer, MJV, Weckhuysen, S, Roovers, J, Djemie, T, Barca, D, Ceulemans, B, Craiu, D, Lemke, JR, Korff, C, Mefford, HC, Meyers, CT, Siegler, Z, Hiatt, SM, Cooper, GM, Bebin, EM, Snijders Blok, L, Veenstra-Knol, HE, Baugh, EH, Brilstra, EH, Volker-Touw, CML, van Binsbergen, E, Revah-Politi, A, Pereira, E, McBrian, D, Pacault, M, Isidor, B, Le Caignec, C, Gilbert-Dussardier, B, Bilan, F, Heinzen, EL, Goldstein, DB, Stevens, SJC, CAUSES Study, EuroEPINOMICS‐RES‐MAE working group & Sands, TT 2018, 'NBEA: Developmental disease gene with early generalized epilepsy phenotypes', Annals of Neurology, vol. 84, no. 5, pp. 788-795. https://doi.org/10.1002/ana.25350

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.

AU - CAUSES Study

AU - EuroEPINOMICS‐RES‐MAE working group

AU - Sands, Tristan T.

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

KW - DE-NOVO MUTATIONS

KW - NEUROBEACHIN

KW - AUTISM

KW - FRAMEWORK

KW - SPECTRUM

KW - DELETION

KW - PATIENT

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 -