A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family-Reference-Cited by-同舟云学术

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A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family

Published:2013 Issue:1 Volume:14 Page:93
ISSN:1471-2156
Container-title:BMC Genetics
language:en
Short-container-title:BMC Genet

Author:

Belhedi Nejla,Bena Frédérique,Mrabet Amel,Guipponi Michel,Souissi Chiraz,Mrabet Hela,Elgaaied Amel,Malafosse Alain,Salzmann Annick

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference39 articles.

1. The epidemiology of epilepsy revisited

2. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

3. Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

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

5. A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

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1. Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders;Genetics in Medicine;2024-08

2. Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13;Genes;2023-02-21

3. Mechanism of the promotion of GEFS+ by the STAT3-mediated expression of interleukin-6;Translational Pediatrics;2022-09

4. Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures;Clinical Genetics;2021-10-27

5. Clinical Application of Epilepsy Genetics in Africa: Is Now the Time?;Frontiers in Neurology;2018-05-02

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