Genetics of the epilepsies

Gutierrez-Delicado, Eva; Serratosa, Joan

doi:10.1097/00019052-200404000-00011

Cited by 43 publications

(19 citation statements)

References 46 publications

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“…Mutations in ARX gene have been found also in autism and dystonia but also in sporadic cryptogenetic infantile spasms in X-linked lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum and midbrain malformations (ACC) [66-68]. …”

Section: Etiologymentioning

confidence: 99%

Infantile spasms: review of the literature and personal experience

Fois

2010

Ital J Pediatr

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This epileptic disorder has become a classic topic for neuropediatricians and the interest is documented by the large number of publications on this subject.The relative frequency among the epileptic syndromes is an another reason why not only neuropediatricians but also general pediatricians must be fully informed about diagnostic, clinical, imaging and genetic aspects.Early diagnosis is of paramount importance in order to obtain even complete results in patients with so called idiopathic situations. A number of problems are still to be solved. There is no agreement on the type and the schedule of treatment. A common denominator about this problem is not jet available even if some advances in this regard have been accomplished. Of paramount importance is an accurate clinical and laboratory examination as a prerequisite regarding prognosis and results of therapy in every single case.However, even if more than 170 years have elapsed since the first communication of dr. West on the peculiar syndrome that his child was suffering of, the interest of scientists on this subject has now been enriched and rewarded.

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Section: Etiologymentioning

confidence: 99%

Infantile spasms: review of the literature and personal experience

Fois

2010

Ital J Pediatr

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“…The vast majority of Mendelian-inherited epilepsy genes encode ion channels (for review see (Gutierrez-Delicado and Serratosa, 2004)), leading to a central hypothesis that genetically altered channel function lowers seizure threshold. In contrast, two human epilepsy genes do not encode ion channels.…”

Section: Introductionmentioning

confidence: 99%

LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology

Owuor

Harel

Englot

et al. 2009

Molecular and Cellular Neuroscience

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Most epilepsy genes encode ion channels, but the LGI1 gene responsible for Autosomal Dominant Partial Epilepsy with Auditory Features produces a secreted protein.LGI1 is suggested to regulate PSD-95 via ADAM22. However, no unbiased screen of LGI1 action has been conducted. Here, we searched for brain genes supporting high affinity LGI-1 binding. ADAM23 was the only LGI1 interactor identified. The related proteins, ADAM22 and ADAM11, but not ADAM12, bind LGI1. Neither ADAM23 nor ADAM11, nor some forms of ADAM22, contain PDZ-interacting sequences, suggesting PSD-95-independent mechanisms in ADPEAF. Because ADAMs modulate integrins, we examined LGI1 effect on neurite outgrowth. LGI1 increases outgrowth from wild type but not ADAM23-/-neurons. Furthermore, CA1 pyramidal neurons of ADAM23-/-hippocampi have reduced dendritic arborization. ADAM23-/-mice exhibit spontaneous seizures, while ADAM23+/-mice have decreased seizure thresholds. Thus, LGI1 binding to ADAM23 is necessary to correctly pattern neuronal morphology and altered anatomical patterning contributes to ADPEAF.

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“…And it has been noticed the majority of genes underlying autosomal dominant idiopathic epilepsies are the ones encoding neuronal ion channel subunits, indicating that ion channels play a central role in both the epileptogenesis and the development of idiopathic epilepsies (Armijo et al, 2005;Avanzini et al, 2007;Gutierrez-Delicado & Serratosa, 2004;Helbig et al, 2008;Lagae, 2008;Mulley et al, 2005;Mulley et al, 2003). This includes the examples of benign familial neonatal seizures (BFNS) caused by mutations of voltage-gated potassium channel genes Li et al, 2008b;Singh et al, 1998), generalized epilepsy with febrile seizures plus (GEFS+) (Sugawara et al, 2001;Wallace et al, 1998) and benign familial neonatal-infantile seizures (BFNIS) (Heron et al, 2002) by the voltage-gated sodium channel gene, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) by neuronal nicotinic acetylcholine receptor subunit gene (Steinlein et al, 1995) and the like.…”

Section: Resultsmentioning

confidence: 99%

“…edu/cgi-bin/hgGateway), and we found the interval 1p36.12-p35.1 contains 315 known genes and 175 predicted genes. By analyzing and comparing the structural and functional characteristics of numerous genes that have been identified to involve in different types of idiopathic epilepsies (Armijo et al, 2005;Avanzini, Franceschetti, & Mantegazza, 2007;Gutierrez-Delicado & Serratosa, 2004;Helbig, Scheffer, Mulley, & Berkovic, 2008;Lagae, 2008;Mulley, Scheffer, Harkin, Berkovic, & Dibbens, 2005;Mulley, Scheffer, Petrou, & Berkovic, 2003), we mainly focused on the following criteria when selecting candidate genes: (a) encode ion channels, pumps, or carriers with relation to neuronal transportation of ions, especially of potassium, sodium, calcium or chloride; (b) encode neurotransmitters and/or neurotransmitter receptors; (c) be relative to excitability, differentiation, development and maturation of neurons; (d) have high and/or selective expression in the central and peripheral nervous system.…”

Section: Candidate Gene Selectionmentioning

confidence: 99%

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

Li¹,

Li²,

Jiang³

et al. 2010

International Journal of Neuroscience

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Benign familial infantile seizures (BFIS) is an autosomal dominant epileptic syndrome characterized by afebrile partial seizures with or without secondary generalized tonic-clonic seizures beginning at three to ten months of age. Genetic studies have revealed three susceptibility chromosomal loci on 19q12-q13.1, 16p12-q12 and 2q24. Previously we described the novel locus on 1p36.12-p35.1 for a Chinese family affected with BFIS, and below is a subsequent mutation analysis of candidate genes for the mapped chromosome region. Forty-five genes were selected and subjected to mutation analysis. Thirty-six nucleotide variants were found, none of which led to pathogenic changes, thereby were identified as nucleotide polymorphisms. The analyses suggest those candidate genes that were detected might not be involved in the epileptogenesis of pure BFIS, at least in the Chinese family we studied.

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Genetics of the epilepsies

Cited by 43 publications

References 46 publications

Infantile spasms: review of the literature and personal experience

Infantile spasms: review of the literature and personal experience

LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

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