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Clin Genet. 2017 Jan;91(1):106-110. doi: 10.1111/cge.12797. Epub 2016 Jun 2.

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

Author information

1
Department of Immunology, Genetics and Pathology, Rudbeck and Science for Life laboratory, Uppsala University, Uppsala, Sweden.
2
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
3
Department of Human Genetics, KU Leuven, Leuven, Belgium.
4
FRIGE's Institute of Human Genetics, Ahmedabad, India.
5
Department of Pediatric Neurology and Child Development Centre, KLES Prabhakar Kore Hospital, Belgaum, India.
6
Laboratoire de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France.
7
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.
8
Institute of Human Development, University of Manchester, Manchester, UK.

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.

KEYWORDS:

2q24 duplication; SCN2A; benign familial neonatal-infantile seizures; neonatal epilepsy; voltage-gated sodium channel

PMID:
27153334
DOI:
10.1111/cge.12797
[Indexed for MEDLINE]

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