Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

Zara, Federico; Labuda, Małgorzata; Garofalo, P; Durisotti, C.; Bianchi, Amedeo; Castellotti, Barbara; Patel, Pragna I.; Avanzini, G.; Pandolfo, Massimo

doi:10.1212/wnl.51.2.493

Cited by 17 publications

(7 citation statements)

References 12 publications

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“…Another layer of regulation occurs at the ER where GTRAP3-18 and RTN2B regulate the amount of EAAT3 leaving the ER for further processing in the Golgi. Interestingly, GTRAP3-18 was found on a susceptibility locus for epilepsy (Zara et al, 1998). …”

Section: Regulation Of Eaat3mentioning

confidence: 99%

The importance of the excitatory amino acid transporter 3 (EAAT3)

Bjørn‐Yoshimoto

Underhill

2016

Neurochemistry International

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The neuronal excitatory amino acid transporter 3 (EAAT3) is fairly ubiquitously expressed in the brain, though it does not necessarily maintain the same function everywhere. It is important in maintaining low local concentrations of glutamate, where its predominant post-synaptic localization can buffer nearby glutamate receptors and modulate excitatory neurotransmission and synaptic plasticity. It is also the main neuronal cysteine uptake system acting as the rate-limiting factor for the synthesis of glutathione, a potent antioxidant, in EAAT3 expressing neurons, while on GABAergic neurons, it is important in supplying glutamate as a precursor for GABA synthesis. Several diseases implicate EAAT3, and modulation of this transporter could prove a useful therapeutic approach. Regulation of EAAT3 could be targeted at several points for functional modulation, including the level of transcription, trafficking and direct pharmacological modulation, and indeed, compounds and experimental treatments have been identified that regulate EAAT3 function at different stages, which together with observations of EAAT3 regulation in patients is giving us insight into the endogenous function of this transporter, as well as the consequences of altered function. This review summarizes work done on elucidating the role and regulation of EAAT3.

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Section: Regulation Of Eaat3mentioning

confidence: 99%

The importance of the excitatory amino acid transporter 3 (EAAT3)

Bjørn‐Yoshimoto

Underhill

2016

Neurochemistry International

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“…15 Several studies have described the clinical manifestations of epilepsy in single families, or sets of families. These Partial epilepsy with pericentral spikes AD 4p15 25 Familial temporal lobe epilepsy with febrile seizures with digenic inheritance AD 1q and 18q 28 Familial partial epilepsy with variable foci AD 22q11-q12 26 AD = autosomal dominant; AR = autosomal recessive. has been implicated.…”

Section: S34mentioning

confidence: 99%

A genética das epilepsias

Lopes-Cendes¹

2008

J. Pediatr. (Rio J.)

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Objectives: To discuss some of the clinical and molecular genetic aspects of new discoveries in the field of the genetics of the epilepsies and relate these with relevant clues for a better understanding of the mechanisms underlying some of the monogenic epilepsy syndromes.Sources: Many study designs have been performed over the years and these include family-based studies, genetic-epidemiology surveys. More recently, molecular genetics studies and gene discovery strategies have been used to unravel the molecular and cell mechanisms involved in several Mendelian epilepsy syndromes. Summary of the findings:The importance of genetic factors in the epilepsies has been recognized since the time of Hippocrates. Conclusions:In the modern era, many studies have demonstrated the existence of an inherited component in the generalized and focal epilepsies and in the last 2 decades a number of families segregating different types of monogenic epilepsy have been described leading to progresses in the characterization of the molecular defects in these families. J Pediatr (Rio J). 2008;84(4 Suppl):S33-39:Monogenic disorders, channelopathies, seizures.

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“…Linkage studies in IGE are difficult, and findings to date remain to be confirmed by replication and identification of the underlying genetic defects. A number of loci have been reported for IGE, including studies of Italian families with evidence for linkage to chromosome 8q (2), non‐JME families to chromosome 8q (4), and another Italian family with an unusual generalized epileptiform EEG trait and IGE to chromosome 3p (5)(Table 1).…”

Section: Genetics Of Generalized Epilepsiesmentioning

confidence: 99%

Genetics of the Epilepsies

Berkovic

Scheffer

2001

Epilepsia

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Summary: Recent molecular insights into the human idiopathic epilepsies have suggested the central role of ligand-gated and voltage-gated ion channels in their etiology. So far, genes coding for sodium and potassium channel subunits as well as a nicotinic cholinergic receptor subunit have been identified for mendelian idiopathic epilepsies. In vitro and in vivo studies of mutations demonstrate functional changes, allowing new insights into mechanisms underlying hyperexcitability. Similarly, spontaneous murine epilepsy models have been associated with calcium channel molecular defects. The major challenge before us in understanding the genetics of the epilepsies is to identify genes for common forms of epilepsy following complex inheritance. Once such genes are discovered, the gene-gene-environmental interactions producing specific epilepsy syndromes can be explored.

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Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

Cited by 17 publications

References 12 publications

The importance of the excitatory amino acid transporter 3 (EAAT3)

The importance of the excitatory amino acid transporter 3 (EAAT3)

A genética das epilepsias

Genetics of the Epilepsies

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