Abstract
Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic-atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor-excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype.
Highlights
Genetic epilepsy with febrile seizures plus (GEFS+) represents a group of genetic epilepsy syndromes, associated with an autosomal dominant pattern
The discovery of the disease-associated genes affecting the sodium channel subunits, such as SCN1A, SCN1B, SCN2A, SCN9A and the genes altering GABA receptor subunits as GABRG2, GABRGD suggest that genetic inheritance is pivotal in GEFS+
As a consequence of progress of genetic findings, GEFS+ has been divided in GEFS+ type 1, determined by SCN1B gene mutation, GEFS+ type 2, caused by mutations of SCN2A, and GEFS+ type 3, determined by GABRG2
Summary
Genetic epilepsy with febrile seizures plus (GEFS+) represents a group of genetic epilepsy syndromes, associated with an autosomal dominant pattern. It was previously named and defined by Scheffer and Berkovic (1997) as generalized epilepsy with febrile seizures, “a genetic disorder with heterogeneous clinical phenotypes” because it was believed that GEFS+ was only associated with generalized seizures [1]. Zhang Y. et al (2017) studied 31 families with GEFS+ and they succeeded to extend the phenotypic spectrum of GEFS+ They added 3 other phenotypic groups to the spectrum: focal epilepsies without FS or FS+, genetic generalized epilepsy and afebrile generalized tonic-clonic seizures (GTCS) [2]. In another study performed on Japanese families with GEFS+, febrile seizures plus were used as the core of all clinical phenotypes and other various epilepsy types which can occur later were included afterwards. The GEFS+ spectrum that they used was classified as follows: generalized epilepsy including absence seizures, myoclonic seizures, atonic seizures and myoclonic-atonic epilepsy, partial epilepsy with temporal lobe epilepsy and frontal lobe epilepsy, unclassified epilepsy with severe myoclonic epilepsy in infancy (SMEI) and intractable childhood epilepsies with generalized tonic-clonic seizures (ICEGTC) [8]
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