Search results for "Epilepsy"

Mutant Plasticity Related Gene 1 (PRG1) acts as a potential modifier in SCN1A related epilepsy

2018

ABSTRACTPlasticity related gene 1 encodes a cerebral neuron-specific synaptic transmembrane protein that modulates hippocampal excitatory transmission on glutamatergic neurons. In mice, homozygous Prg1-deficiency results in juvenile epilepsy. Screening a cohort of 18 patients with infantile spasms (West syndrome), we identified one patient with a heterozygous mutation in the highly conserved third extracellular phosphatase domain (p.T299S). The functional relevance of this mutation was verified by in-utero electroporation of a mutant Prg1 construct into neurons of Prg1-knockout embryos, and the subsequent inability of hippocampal neurons to rescue the knockout phenotype on the single cell l…

Disfunzioni sessuali, farmaci antiepilettici e profilo ormonale sierico negli uomini affetti da epilessia. Sexual disfunctions, antiepileptic drugs, …

2012

Sexual dysfunctions (SD) are a relatively common problem in men with epilepsy; the prevalence ranges from 38-71%. Etiology may be multifactorial and may involve both the epilepsy and the use of antiepileptic drugs. The purpose of this study was to evaluate the incidence of SD in epileptic men, assessing the type of epilepsy, seizures frequency, antiepileptic drugs used, the serum hormonal profile and the presence of psychiatric disorders.

Epileptic Crisis by Pneumoencephalon as the First Manifestation of an Ethmoid-Frontal Osteoma

2019

Radiosurgery of Epilepsy

1993

Since 1982 a series of 11 epileptic patients have been treated with stereotactic radiosurgery. Patients were intracranially recorded with cortical and deep electrodes until the location of the epileptogenic focus was determined. A deep electrode was stereotactically placed at this point to confirm the accuracy of the location. All patients received radiosurgery with a gamma source and a dose of 10 to 20 Gy, except two of them in which a betatron was used. The results were: Total disappearance of the crises and withdrawal of medication: 4 cases (36%). More than 80% reduction of crises: 3 cases (27%). More than 50% reduction of crises: 2 cases (18%). Less than 50% reduction of crises: 2 cases…

Enhanced tonic GABAA inhibition in typical absence epilepsy

2009

The cellular mechanisms underlying typical absence seizures, which characterize various idiopathic generalized epilepsies, are not fully understood, but impaired γ-aminobutyric acid (GABA)-ergic inhibition remains an attractive hypothesis. In contrast, we show here that extrasynaptic GABAA receptor–dependent 'tonic' inhibition is increased in thalamocortical neurons from diverse genetic and pharmacological models of absence seizures. Increased tonic inhibition is due to compromised GABA uptake by the GABA transporter GAT-1 in the genetic models tested, and GAT-1 is crucial in governing seizure genesis. Extrasynaptic GABAA receptors are a requirement for seizures in two of the best character…

The inhibitory neural circuitry as target of antiepileptic drugs.

2001

Impairments and defects in the inhibitory neurotransmission in the CNS can contribute to various seizure disorders, i.e., gamma-aminobutyric acid (GABA) and glycine as the main inhibitory neurotransmitters in the brain play a crucial role in some forms of epilepsy. Recent advances in deciphering the molecular basis of the GABAergic and glycinergic systems has been achieved by means of cloning techniques and gene targeting strategies in animals, contributing to the understanding of drug action. As well, several anticonvulsive substances emerged which target key molecules of the inhibitory systems. Employment of recombinant expression systems, including, but not restricted to the inhibitory c…

Lack of SCN1A Mutations in Familial Febrile Seizures

2002

Summary:  Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…

Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.

2013

No abstract available

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations

2021

AbstractPurposePathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations.MethodsThrough an international collaboration, we analyzed electro-clinical data of unpublished individuals with variants in GABRB3 and we reviewed previously published cases. All missense variants were mapped onto the 3D structure of the GABRB3 subunit and clinical phenotypes associated with the dif…

GRIN1 locus may modify the susceptibility to seizures during alcohol withdrawal

2005

N-Methyl-D-aspartate (NMDA) receptors, members of the glutamate receptor channel superfamily, are generally inhibited by alcohol. The expression and alternative splicing of the obligatory NR1 subunit is altered by alcohol exposure, emphasizing the involvement of the NR1 subunit, which is coded by the GRIN1 gene, in alcohol-mediated effects. We performed an association study in patients with alcohol dependence with the GRIN1 locus. Two independent case control samples consisting of a total of 442 alcohol-dependent patients and 442 unrelated controls were included. There was no overall difference in allele or genotype frequency between patients and controls. However, the 2108A allele and A-co…