Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

A. C. Thuresson; G. Van Buggenhout; F. Sheth; M. Kamate; J. Andrieux; Jill Clayton-Smith; C. Soussi Zander

doi:10.1111/cge.12797

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

A. C. Thuresson^*, G. Van Buggenhout, F. Sheth, M. Kamate, J. Andrieux, Jill Clayton-Smith, C. Soussi Zander

^*Corresponding author for this work

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Abstract

Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here, we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of 1-2 years. However, the number of copies of SCN2A does not appear to have an effect on cognitive outcome.

Original language	English
Journal	Clinical Genetics
Early online date	6 May 2016
DOIs	https://doi.org/10.1111/cge.12797
Publication status	Published - 2016

Keywords

2q24 duplication
Benign familial neonatal-infantile seizures
Neonatal epilepsy
SCN2A
Voltage-gated sodium channel

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10.1111/cge.12797

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title = "Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development",

abstract = "Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here, we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of 1-2 years. However, the number of copies of SCN2A does not appear to have an effect on cognitive outcome.",

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T1 - Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

AU - Thuresson, A. C.

AU - Van Buggenhout, G.

AU - Sheth, F.

AU - Kamate, M.

AU - Andrieux, J.

AU - Clayton-Smith, Jill

AU - Soussi Zander, C.

PY - 2016

Y1 - 2016

N2 - Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here, we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of 1-2 years. However, the number of copies of SCN2A does not appear to have an effect on cognitive outcome.

AB - Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here, we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of 1-2 years. However, the number of copies of SCN2A does not appear to have an effect on cognitive outcome.

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KW - Voltage-gated sodium channel

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U2 - 10.1111/cge.12797

DO - 10.1111/cge.12797

M3 - Article

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SN - 0009-9163

JO - Clinical Genetics

JF - Clinical Genetics

ER -

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

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