Publication

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

Scheffer, I. E., Zhang, Y-H., Jansen, F. E. & Dibbens, L., May-2009, In : Brain & Development. 31, 5, p. 394-400 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

Scheffer, I. E., Zhang, Y-H., Jansen, F. E., & Dibbens, L. (2009). Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain & Development, 31(5), 394-400. https://doi.org/10.1016/j.braindev.2009.01.001

Author

Scheffer, Ingrid E. ; Zhang, Yue-Hua ; Jansen, Floor E. ; Dibbens, Leanne. / Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?. In: Brain & Development. 2009 ; Vol. 31, No. 5. pp. 394-400.

Harvard

Scheffer, IE, Zhang, Y-H, Jansen, FE & Dibbens, L 2009, 'Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?', Brain & Development, vol. 31, no. 5, pp. 394-400. https://doi.org/10.1016/j.braindev.2009.01.001

Standard

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? / Scheffer, Ingrid E.; Zhang, Yue-Hua; Jansen, Floor E.; Dibbens, Leanne.

In: Brain & Development, Vol. 31, No. 5, 05.2009, p. 394-400.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

Scheffer IE, Zhang Y-H, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain & Development. 2009 May;31(5):394-400. https://doi.org/10.1016/j.braindev.2009.01.001


BibTeX

@article{4bffd114a16848e28762229a8c6ebc76,
title = "Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?",
abstract = "Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due 10 mutations of SCN1A. the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70{\%},, of patients with Dravet syndrome have mutations of SCN1A these include both truncation and missense mutations. In contrast, only 10{\%} of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations Of genes encoding the sodium channel beta I subunit. SCN1B. and the GABA(A) receptor gamma 2 subunit. GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be clue to modifier genes. Interpretation of the significance of a. SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. (C) 2009 Elsevier B.V. All rights reserved.",
keywords = "Dravet syndrome, SMEI, GEFS, Febrile seizures, SCN1A, SCN1B, GABRG2, SEVERE MYOCLONIC EPILEPSY, REDUCED SODIUM CURRENT, TONIC-CLONIC SEIZURES, ALPHA-1 SUBUNIT GENE, DE-NOVO MUTATIONS, SCN1A MUTATIONS, MISSENSE MUTATIONS, ABSENCE EPILEPSY, INFANCY SMEI, CHANNEL",
author = "Scheffer, {Ingrid E.} and Yue-Hua Zhang and Jansen, {Floor E.} and Leanne Dibbens",
year = "2009",
month = "5",
doi = "10.1016/j.braindev.2009.01.001",
language = "English",
volume = "31",
pages = "394--400",
journal = "Brain & Development",
issn = "0387-7604",
number = "5",

}

RIS

TY - JOUR

T1 - Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

AU - Scheffer, Ingrid E.

AU - Zhang, Yue-Hua

AU - Jansen, Floor E.

AU - Dibbens, Leanne

PY - 2009/5

Y1 - 2009/5

N2 - Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due 10 mutations of SCN1A. the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70%,, of patients with Dravet syndrome have mutations of SCN1A these include both truncation and missense mutations. In contrast, only 10% of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations Of genes encoding the sodium channel beta I subunit. SCN1B. and the GABA(A) receptor gamma 2 subunit. GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be clue to modifier genes. Interpretation of the significance of a. SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. (C) 2009 Elsevier B.V. All rights reserved.

AB - Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) can both arise due 10 mutations of SCN1A. the gene encoding the alpha 1 pore-forming subunit of the sodium channel. GEFS+ refers to a familial epilepsy syndrome where at least two family members have phenotypes that fit within the GEFS+ spectrum. The GEFS+ spectrum comprises a range of mild to severe phenotypes varying from classical febrile seizures to Dravet syndrome. Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome. More than 70%,, of patients with Dravet syndrome have mutations of SCN1A these include both truncation and missense mutations. In contrast, only 10% of GEFS+ families have SCN1A mutations and these comprise missense mutations. GEFS+ has also been associated with mutations Of genes encoding the sodium channel beta I subunit. SCN1B. and the GABA(A) receptor gamma 2 subunit. GABRG2. The phenotypic heterogeneity that is characteristic of GEFS+ families is likely to be clue to modifier genes. Interpretation of the significance of a. SCN1A missense mutation requires a thorough understanding of the phenotypes in the GEFS+ spectrum whereas a de novo truncation mutation is likely to be associated with a severe phenotype. Early recognition of Dravet syndrome is important as aggressive control of seizures may improve developmental outcome. (C) 2009 Elsevier B.V. All rights reserved.

KW - Dravet syndrome

KW - SMEI

KW - GEFS

KW - Febrile seizures

KW - SCN1A

KW - SCN1B

KW - GABRG2

KW - SEVERE MYOCLONIC EPILEPSY

KW - REDUCED SODIUM CURRENT

KW - TONIC-CLONIC SEIZURES

KW - ALPHA-1 SUBUNIT GENE

KW - DE-NOVO MUTATIONS

KW - SCN1A MUTATIONS

KW - MISSENSE MUTATIONS

KW - ABSENCE EPILEPSY

KW - INFANCY SMEI

KW - CHANNEL

U2 - 10.1016/j.braindev.2009.01.001

DO - 10.1016/j.braindev.2009.01.001

M3 - Article

VL - 31

SP - 394

EP - 400

JO - Brain & Development

JF - Brain & Development

SN - 0387-7604

IS - 5

ER -

ID: 4889064