Advances on the genetics of Mendelian idiopathic epilepsies.

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Clinics in Laboratory Medicine

• Publication date

  2010-12-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.cll.2010.07.008PMID 20832659
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Altered Function of the SCN1A Voltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities*

  2010cited by this paper
• Disruption of LGI1–linked synaptic complex causes abnormal synaptic transmission and epilepsy

  2010cited by this paper
• Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice

  2010cited by this paper
• Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

  2010cited by this paper
• Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability.

  2010cited by this paper
• A locus for juvenile myoclonic epilepsy maps to 2q33–q36

  2010cited by this paper
• A Missense Mutation of the Gene Encoding Voltage-Dependent Sodium Channel (Nav1.1) Confers Susceptibility to Febrile Seizures in Rats

  2010cited by this paper
• A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

  2009cited by this paper
• A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.

  2009cited by this paper
• LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy

  2009cited by this paper
• Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+

  2009cited by this paper
• Genetics of epilepsy syndromes starting in the first year of life

  2009cited by this paper
• Progress in searching for the febrile seizure susceptibility genes.

  2009cited by this paper
• CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.

  2009cited by this paper
• A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.

  2009cited by this paper
• A catalog of SCN1A variants.

  2009cited by this paper
• Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?

  2009cited by this paper
• A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

  2009cited by this paper
• A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.

  2008cited by this paper
• A novel locus for generalized epilepsy with febrile seizures plus in French families.

  2008cited by this paper
• Epilepsy : a comprehensive textbook

  2008cited by this paper
• A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2–q26.33

  2008cited by this paper
• Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

  2008cited by this paper
• Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene

  2008cited by this paper
• Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor.

  2008cited by this paper
• Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.

  2008cited by this paper
• Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy.

  2007cited by this paper
• Familial mesial temporal lobe epilepsy (FMTLE)

  2007cited by this paper
• Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation

  2007cited by this paper
• Randomized, multicenter, dose-ranging trial of retigabine for partial-onset seizures

  2007cited by this paper
• A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely.

  2007cited by this paper
• Defining the expression pattern of the LGI1 gene in BAC transgenic mice

  2007cited by this paper
• Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3

  2007cited by this paper
• Correlating the Clinical and Genetic Features of Benign Familial Neonatal Seizures (BFNS) with the Functional Consequences of Underlying Mutations

  2007cited by this paper
• New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p

  2007cited by this paper
• The state of the art in the genetic analysis of the epilepsies

  2007cited by this paper
• Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

  2007cited by this paper
• SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum

  2007cited by this paper
• The role of the nicotinic acetylcholine receptors in sleep-related epilepsy.

  2007cited by this paper
• Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

  2006cited by this paper
• Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

  2006cited by this paper
• Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

  2006cited by this paper
• Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.

  2006cited by this paper
• SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy

  2006cited by this paper
• Epilepsy-Related Ligand/Receptor Complex LGI1 and ADAM22 Regulate Synaptic Transmission

  2006cited by this paper
• The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1.

  2006cited by this paper
• The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface.

  2006cited by this paper
• A novel GABRG2 mutation associated with febrile seizures

  2006cited by this paper
• Identification of a Novel Locus for Febrile Seizures and Epilepsy on Chromosome 21q22

  2006cited by this paper
• Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

  2006cited by this paper
• Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

  2006cited by this paper
• Epileptic Syndromes in Infancy, Childhood and Adolescence

  2005cited by this paper
• A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus

  2005cited by this paper
• Refinement of the chromosome 16 locus for benign familial infantile convulsions

  2005cited by this paper
• Severe myoclonic epilepsy in infancy: Dravet syndrome.

  2005cited by this paper
• ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy.

  2005cited by this paper
• Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

  2004cited by this paper
• Fever, genes, and epilepsy.

  2004cited by this paper
• Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18

  2004cited by this paper
• Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12

  2004cited by this paper
• The neurobiology of antiepileptic drugs

  2004cited by this paper
• The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam.

  2004cited by this paper
• Novel locus on chromosome 12q22–q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

  2004cited by this paper
• Mutations in EFHC1 cause juvenile myoclonic epilepsy

  2004cited by this paper
• De novo KCNQ2 mutations in patients with benign neonatal seizures

  2004cited by this paper
• Familial Partial Epilepsy with Variable Foci in a Dutch Family: Clinical Characteristics and Confirmation of Linkage to Chromosome 22q

  2003cited by this paper
• A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

  2003cited by this paper
• Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

  2003cited by this paper
• KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

  2003cited by this paper
• A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.

  2002cited by this paper
• Sodium-channel defects in benign familial neonatal-infantile seizures.

  2002cited by this paper
• Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B

  2002cited by this paper
• Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

  2002cited by this paper
• Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

  2002cited by this paper
• Functional and Biochemical Analysis of a Sodium Channel β1 Subunit Mutation Responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1

  2002cited by this paper
• Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

  2002cited by this paper
• Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

  2002cited by this paper
• A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

  2002cited by this paper
• The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.

  2002cited by this paper
• Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

  2001cited by this paper
• Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.

  2001cited by this paper
• First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

  2001cited by this paper
• Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

  2001cited by this paper
• De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

  2001cited by this paper
• CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.

  2001cited by this paper
• Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25‐q31

  2001cited by this paper
• The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy

  2000cited by this paper
• Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

  2000cited by this paper
• Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE

  2000cited by this paper
• A de novo mutation in sporadic nocturnal frontal lobe epilepsy

  2000cited by this paper
• The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.

  2000cited by this paper
• Autosomal dominant partial epilepsy with auditory features: Defining the phenotype

  2000cited by this paper
• Generalized epilepsy with febrile seizures plus: A common childhood‐onset genetic epilepsy syndrome

  1999cited by this paper
• SV2A and SV2B function as redundant Ca2+ regulators in neurotransmitter release.

  1999cited by this paper
• Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.

  1999cited by this paper
• A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24

  1999cited by this paper
• Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

  1999cited by this paper
• A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

  1999cited by this paper
• A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

  1998cited by this paper
• Radicals r'aging

  1998cited by this paper

• Novel co-occurrence of SLC26A4 and KCTD7 variants in a pediatric patient with syndromic hearing loss and myoclonic epilepsy

  2025cites this paper
• A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy

  2024cites this paper
• Clinical and genetic features of GATOR1 complex-associated epilepsy

  2023cites this paper
• A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy

  2021cites this paper
• GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population

  2016cites this paper
• Βιοπληροφορική ανάλυση του νευρικού συστήματος

  2015cites this paper
• Epilepsy and chromosome 18 abnormalities: A review.

  2015cites this paper
• Advances on genetic rat models of epilepsy

  2014cites this paper
• A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French‐Canadian population

  2014cites this paper
• Highights in the History of Epilepsy: The Last 200 Years

  2014cites this paper
• Mutations of DEPDC5 cause autosomal dominant focal epilepsies

  2013cites this paper
• Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

  2013cites this paper
• KCNJ10 gene mutation in an 8-year-old boy with seizures

  2012cites this paper
• A rat model for LGI1-related epilepsies.

  2012cites this paper
• The Sodium Channel Accessory Subunit Navβ1 Regulates Neuronal Excitability through Modulation of Repolarizing Voltage-Gated K+ Channels

  2012cites this paper
• Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

  2012cites this paper
• Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

  2012cites this paper
• Targeted next generation sequencing as a diagnostic tool in epileptic disorders

  2012cites this paper
• TheSodiumChannelAccessorySubunitNav1Regulates NeuronalExcitabilitythroughModulationofRepolarizing Voltage-GatedKChannels

  2012cites this paper
• Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

  2012cites this paper
• Novel Aspects on Epilepsy

  2011cites this paper
• Canine epilepsy genetics

  2011cites this paper
• Molekularzytogenetische Eingrenzung der Bruchpunkte von sieben krankheitsassoziierten chromosomalen Rearrangements

  2011cites this paper
• Hallmarks in the History of Epilepsy: From Antiquity Till the Twentieth Century

  2011cites this paper
• [Clinical analysis of paroxysmal motor phenomena in the neonate].

  2011cites this paper
• Clinical analysis of paroxysmal motor phenomena in the neonate

  2011cites this paper
• Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures.

  2011cites this paper
• Mapping a mouse limbic seizure susceptibility locus on chromosome 10

  2011cites this paper
• Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice

  2010cites this paper
• A Missense Mutation of the Gene Encoding Voltage-Dependent Sodium Channel (Nav1.1) Confers Susceptibility to Febrile Seizures in Rats

  2010cites this paper