Lista de obras - Stéphanie Baulac - Dominio Público Uruguay

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

artículo científico publicado en 2009

A rat model for LGI1-related epilepsies

artículo científico publicado en 2012

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

artículo científico publicado en 2007

Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis

artículo científico publicado en 2020

Choking Fits During Sleep Related to Epilepsy.

artículo científico publicado en 2016

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes

article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

artículo científico publicado en 2014

DEPDC5-Related Epilepsy

artículo científico publicado en 1993

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

artículo científico publicado en 2013

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

artículo científico publicado en 2014

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

artículo científico publicado en 2018

Depdc5 knockout rat: A novel model of mTORopathy

artículo científico publicado en 2016

Dimerization of Parkinson's disease-causing DJ-1 and formation of high molecular weight complexes in human brain

artículo científico publicado en 2004

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

artículo científico publicado en 2019

Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families

artículo científico publicado en 2000

Epilepsy gene LGI1 regulates postnatal developmental remodeling of retinogeniculate synapses

artículo científico publicado en 2012

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

artículo científico publicado en 2001

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

artículo científico publicado en 2015

Fever, genes, and epilepsy

artículo científico publicado en 2004

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

artículo científico publicado en 2001

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

artículo científico publicado en 2021

Functional gamma-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and gamma-secretase substrates

artículo científico publicado en 2003

GABAA Receptor 2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition

artículo científico publicado en 2007

Genes in infantile epileptic encephalopathies

article

Genes in infantile epileptic encephalopathies

article published in 2012

Genetic models of focal epilepsies

artículo científico

Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.

artículo científico

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

artículo científico publicado en 2012

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

artículo científico publicado en 2016

Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures

artículo científico publicado en 2014

Increased DJ-1 expression under oxidative stress and in Alzheimer's disease brains

artículo científico publicado en 2009

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

artículo científico publicado en 2016

LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development

artículo científico publicado en 2016

LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels.

artículo científico publicado en 2017

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

artículo científico publicado en 2011

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

artículo científico publicado en 2010

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

artículo científico publicado en 2018

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

artículo científico publicado en 2011

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

artículo científico publicado en 2013

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

artículo científico publicado en 2000

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

artículo científico publicado en 2007

Novel GABRG2 mutations cause familial febrile seizures

artículo científico publicado en 2015

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

artículo científico publicado en 2014

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy

article by Theo Ribierre et al published 1 June 2018 in Journal of Clinical Investigation

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

artículo científico publicado en 2013

The Nogo Receptor Ligand LGI1 Regulates Synapse Number and Synaptic Activity in Hippocampal and Cortical Neurons

artículo científico publicado en 2018

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

artículo científico publicado en 2007

Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss

artículo científico publicado en 2006

[A second-hit somatic mutation drives neurodevelopmental epilepsy]

artículo científico publicado en 2019

mTOR pathway in familial focal epilepsies

artículo científico publicado en 2016

mTOR pathway, focal cortical dysplasia and epilepsy

artículo científico publicado en 2018

mTOR signaling pathway genes in focal epilepsies

artículo científico publicado en 2016

Lista de obras de Stéphanie Baulac

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

A rat model for LGI1-related epilepsies

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis

Choking Fits During Sleep Related to Epilepsy.

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

DEPDC5-Related Epilepsy

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Depdc5 knockout rat: A novel model of mTORopathy

Dimerization of Parkinson's disease-causing DJ-1 and formation of high molecular weight complexes in human brain

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Dominant partial epilepsies: A clinical, electrophysiological and genetic study of 19 European families

Epilepsy gene LGI1 regulates postnatal developmental remodeling of retinogeniculate synapses

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

Fever, genes, and epilepsy

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)

Functional gamma-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and gamma-secretase substrates

GABAA Receptor 2 Subunit Mutations Linked to Human Epileptic Syndromes Differentially Affect Phasic and Tonic Inhibition

Genes in infantile epileptic encephalopathies

Genes in infantile epileptic encephalopathies

Genetic models of focal epilepsies

Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures

Increased DJ-1 expression under oxidative stress and in Alzheimer's disease brains

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development

LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels.

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

Novel GABRG2 mutations cause familial febrile seizures

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

The Nogo Receptor Ligand LGI1 Regulates Synapse Number and Synaptic Activity in Hippocampal and Cortical Neurons

The landscape of epilepsy-related GATOR1 variants

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss

[A second-hit somatic mutation drives neurodevelopmental epilepsy]

mTOR pathway in familial focal epilepsies

mTOR pathway, focal cortical dysplasia and epilepsy

mTOR signaling pathway genes in focal epilepsies