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01-01-2012 | Original Paper

Generalised epilepsy with febrile seizures plus (GEFS⁺): molecular analysis in a restricted area

Authors: Agata Polizzi, Gemma Incorpora, Piero Pavone, Martino Ruggieri, Grazia Annesi, Antonio Gambardella, Lorenzo Pavone, Aldo Quattrone

Published in: Child's Nervous System | Issue 1/2012

Abstract

Purpose

Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus (GEFS⁺) and their affected and some unaffected family members, coming from a restricted geographic area, was performed.

Methods

Eight GEFS⁺ families (58 members) diagnosed according to current GEFS⁺ criteria were studied.

Results

A heterozygous point mutation A2336G was detected in exon 13 of the SCNA1 gene in three affected members of one family but not in their unaffected relatives; a novel Ile1944Thr mutation was located within the intracellular C-terminal region of the SCNA1 gene in the proband and his healthy father in a second family. In the former family, the proband had dysmorphic features including large forehead, large nasal bridge, pointed nasal tip, triangular nostrils, deep nasolabial folds, thin upper lips with large mouth, congenital gingival hyperplasia with wide gingiva and mental retardation, abnormalities not previously listed in the clinical spectrum of GEFS⁺.

Conclusions

Our study confirms that just a few GEFS⁺ families have mutations in the five genes classically known and reinforces the genetic and also the phenotypic variability of GEFS⁺ featuring clinical manifestations. Question rises whether the cognitive problems seen in two siblings and dysmorphic features in one of them may be related to the channelopathy as it occurs in other well-known ion channel disorders.

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Title: Generalised epilepsy with febrile seizures plus (GEFS+): molecular analysis in a restricted area
Authors: Agata Polizzi
Gemma Incorpora
Piero Pavone
Martino Ruggieri
Grazia Annesi
Antonio Gambardella
Lorenzo Pavone
Aldo Quattrone
Publication date: 01-01-2012
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 1/2012
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-011-1592-9

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Generalised epilepsy with febrile seizures plus (GEFS⁺): molecular analysis in a restricted area

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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