Lista de obras -

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

artículo científico publicado en 2006

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11

article

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

artículo científico publicado en 2004

A retrospective study on aetiology based outcome of infantile spasms

artículo científico publicado en 2008

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene

artículo científico publicado en 2003

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

artículo científico publicado en 2021

Audit of EEG reporting temporal abnormalities ⬇️

artículo científico publicado el 1 de noviembre de 2010

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

artículo científico publicado en 2005

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

scientific article published on 09 January 2020

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

artículo científico publicado en 2013

Channelopathies and juvenile myoclonic epilepsy

scientific article published on 01 February 2010

Consensus on diagnosis and management of JME: From founder's observations to current trends.

artículo científico publicado en 2013

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

artículo científico publicado en 2018

De novo mutations in epileptic encephalopathies

artículo científico publicado en 2013

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

artículo científico publicado en 2016

Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord

artículo científico publicado en 2008

Effects of SYN1Q555X mutation on cortical gray matter microstructure.

artículo científico publicado en 2018

Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cells

artículo científico publicado en 2013

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

artículo científico publicado en 2013

Exome sequencing identifies FUS mutations as a cause of essential tremor

artículo científico publicado en 2012

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

artículo científico publicado en 2018

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

article

FHF1 (FGF12) epileptic encephalopathy.

artículo científico publicado en 2016

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

artículo científico publicado en 2015

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

artículo científico publicado en 2003

Generalized epilepsy and classic spike-wave discharges with unilateral thalamic lesions

artículo científico publicado en 2006

Genetic influence on the clinical characteristics and outcome of febrile seizures--a retrospective study.

artículo científico publicado en 2005

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

artículo científico publicado en 2014

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

artículo científico publicado en 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

artículo científico publicado en 2017

Human copy number variants are enriched in regions of low mappability

Increased frequency of proinflammatory CD4 T cells and pathological levels of serum neurofilament light chain in adult drug-resistant epilepsy

artículo científico publicado en 2020

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

artículo científico publicado en 2011

Lamotrigine therapy of epilepsy with Angelman's syndrome

artículo científico publicado en 2007

Microsurgery of epileptic foci in the insular region

artículo científico publicado en 2009

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

artículo científico publicado en 2005

Monogenic epilepsies in humans: molecular mechanisms and relevance for the study of intractable epilepsy.

artículo científico publicado en 2006

Mutated GABA(A) receptor subunits in idiopathic generalized epilepsy ⬇️

artículo científico publicado el 13 de julio de 2012

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

artículo científico publicado en 2002

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

scientific journal article

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

artículo científico publicado en 2008

Novel de novo SHANK3 mutation in autistic patients

artículo científico publicado en 2009

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

artículo científico publicado en 2011

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

artículo científico publicado en 2008

Polygenic risk scores of several subtypes of epilepsies in a founder population

scientific article published on 27 March 2020

Potentially life-threatening ictal bradycardia in intractable epilepsy

artículo científico publicado en 2009

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

article

Retrospective analysis of phone queries to an epilepsy clinic hotline

artículo científico publicado en 2014

Revisiting the role of the insula in refractory partial epilepsy

artículo científico publicado en 2009

Risk factors for valproic acid resistance in childhood absence epilepsy

artículo científico publicado en 2009

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

artículo científico publicado en 2007

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

artículo científico publicado en 2011

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

scientific article published on 15 August 2013

Sacred disease secrets revealed: the genetics of human epilepsy

artículo científico publicado en 2005

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy

artículo científico publicado en 2010

Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner

artículo científico publicado en 2014

Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae

scientific article published on 11 November 2019

Testing association of rare genetic variants with resistance to three common antiseizure medications

artículo científico publicado en 2020

The clinical impact of integration of magnetoencephalography in the presurgical workup for refractory nonlesional epilepsy

artículo científico publicado en 2017

The genetic landscape of infantile spasms

article

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation

artículo científico publicado en 2015

Utility of magnetic source imaging in nonlesional focal epilepsy: a prospective study

scientific article published on 01 April 2020

Value of 3.0 T MR imaging in refractory partial epilepsy and negative 1.5 T MRI

scientific article published on 29 July 2010

Variants in CHRNB2 and CHRNA4 identified in patients with insular epilepsy

artículo científico publicado en 2020

Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy

artículo científico publicado en 2011

X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome

artículo científico publicado en 2015

γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment

scientific article published on 15 October 2018

Lista de obras de

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

A retrospective study on aetiology based outcome of infantile spasms

Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene

Analysis of shared heritability in common disorders of the brain

Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

Audit of EEG reporting temporal abnormalities ⬇️

Autosomal dominant juvenile myoclonic epilepsy and GABRA1.

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Channelopathies and juvenile myoclonic epilepsy

Consensus on diagnosis and management of JME: From founder's observations to current trends.

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

De novo mutations in epileptic encephalopathies

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord

Effects of SYN1Q555X mutation on cortical gray matter microstructure.

Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cells

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

Exome sequencing identifies FUS mutations as a cause of essential tremor

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

FHF1 (FGF12) epileptic encephalopathy.

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

Generalized epilepsy and classic spike-wave discharges with unilateral thalamic lesions

Genetic influence on the clinical characteristics and outcome of febrile seizures--a retrospective study.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Human copy number variants are enriched in regions of low mappability

Human copy number variants are enriched in regions of low mappability

Increased frequency of proinflammatory CD4 T cells and pathological levels of serum neurofilament light chain in adult drug-resistant epilepsy

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

Lamotrigine therapy of epilepsy with Angelman's syndrome

Microsurgery of epileptic foci in the insular region

Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy

Monogenic epilepsies in humans: molecular mechanisms and relevance for the study of intractable epilepsy.

Mutated GABA(A) receptor subunits in idiopathic generalized epilepsy ⬇️

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Novel de novo SHANK3 mutation in autistic patients

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

Phenotypic concordance in 70 families with IGE-implications for genetic studies of epilepsy

Polygenic risk scores of several subtypes of epilepsies in a founder population

Potentially life-threatening ictal bradycardia in intractable epilepsy

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

Retrospective analysis of phone queries to an epilepsy clinic hotline

Revisiting the role of the insula in refractory partial epilepsy

Risk factors for valproic acid resistance in childhood absence epilepsy

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

Sacred disease secrets revealed: the genetics of human epilepsy

Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy

Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner

Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae

Testing association of rare genetic variants with resistance to three common antiseizure medications

The clinical impact of integration of magnetoencephalography in the presurgical workup for refractory nonlesional epilepsy

The genetic landscape of infantile spasms

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation

Utility of magnetic source imaging in nonlesional focal epilepsy: a prospective study

Value of 3.0 T MR imaging in refractory partial epilepsy and negative 1.5 T MRI

Variants in CHRNB2 and CHRNA4 identified in patients with insular epilepsy

Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy

X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome

γ-Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment