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Genetic Causes of Generalized Epilepsies.

作者信息

Helbig Ingo

机构信息

Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

出版信息

Semin Neurol. 2015 Jun;35(3):288-92. doi: 10.1055/s-0035-1552922. Epub 2015 Jun 10.


DOI:10.1055/s-0035-1552922
PMID:26060908
Abstract

Generalized epilepsies, particularly the idiopathic or genetic generalized epilepsies (GGEs), represent some of the most common epilepsies. Clinical genetic data including family studies and twin studies provide compelling evidence for a prominent genetic impact. The first decade of the 21st century was marked by progress in understanding the basic biology of generalized epilepsies including generalized/genetic epilepsies with febrile seizures plus (GEFS+) and GGE through studies of large families, discovering causative mutations in SCN1A, SCN1B, GABRG2, and GABRA1. Subsequently, recurrent microdeletions at 15q13.3, 16p13.11, and 15q11.2 were found to be relevant risk factors for nonfamilial GGE. Genes for epileptic encephalopathies such as SLC2A1 were rediscovered in GGE, highlighting the biological continuum between different epilepsies. Genome-wide studies examining common genetic risk factors identified common variants in SCN1A, indicating a convergence of shared pathophysiological pathways in various types of epilepsies. In the era of next-generation sequencing, however, the GGEs appear more complex than expected, and small or moderately sized studies give only a limited genetic perspective. Thus, there is a strong impetus for large collaborative investigations on an international level.

摘要

相似文献

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[3]
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[4]
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[5]
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[6]
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[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
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Front Neurol. 2025-6-3

[2]
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Ital J Pediatr. 2025-4-12

[3]
Genetic mechanisms in generalized epilepsies.

Acta Epileptol. 2023-3-10

[4]
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.

Am J Hum Genet. 2024-12-5

[5]
Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.

Neurogenetics. 2024-4

[6]
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[7]
Thalamocortical circuits in generalized epilepsy: Pathophysiologic mechanisms and therapeutic targets.

Neurobiol Dis. 2023-6-1

[8]
Genetic Landscape of Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.

Mol Syndromol. 2022-7

[9]
Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study.

Ital J Pediatr. 2022-9-2

[10]
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.

Front Pediatr. 2022-8-1

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