Lista de obras -

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

article by Kyota Aoyagi et al published August 2015 in Human Mutation

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

artículo científico publicado en 2007

An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder

artículo científico publicado en 2013

Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder

artículo científico publicado en 2015

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome

scientific article published on 29 August 2019

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

artículo científico publicado en 2015

CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures

artículo científico publicado en 2013

Chemical Stability of Morphine, Ropivacaine, and Ziconotide in Combination for Intrathecal Analgesia

artículo científico

Chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2013

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

artículo científico publicado en 2008

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2019

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

artículo científico publicado en 2014

Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study

artículo científico publicado en 2015

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

scientific article published on 01 October 2020

Evolution and treatment of childhood chronic inflammatory polyneuropathy

scientific article published on 01 February 2007

Ex Utero Electroporation and Organotypic Slice Cultures of Embryonic Mouse Brains for Live-Imaging of Migrating GABAergic Interneurons

artículo científico publicado en 2018

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

artículo científico publicado en 2020

FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.

artículo científico publicado en 2017

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

artículo científico publicado en 2018

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

artículo científico publicado en 2017

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2018

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

artículo científico publicado en 2015

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

scientific article published on 25 April 2019

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

artículo científico publicado en 2014

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

scientific article published on 27 June 2019

New UPLC–MS/MS assay for the determination of tamoxifen and its metabolites in human plasma, application to patients.

artículo científico publicado en 2019

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

artículo científico publicado en 2015

Opposing regulation of dopaminergic activity and exploratory motor behavior by forebrain and brainstem cholinergic circuits

scientific article published on January 2012

Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation

artículo científico publicado en 2017

PHACTRing in actin: actin deregulation in genetic epilepsies

artículo científico publicado en 2018

Preface

artículo científico publicado en 2016

Recessive mutations in VPS13D cause childhood-onset movement disorders

artículo científico publicado en 2018

Remodeled cortical inhibition prevents motor seizures in generalized epilepsy

scientific article published on 01 September 2018

Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons

artículo científico publicado en 2012

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

artículo científico publicado en 2020

The cell-intrinsic requirement of Sox6 for cortical interneuron development

artículo científico publicado en 2009

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

artículo científico publicado en 2019

The genetic landscape of infantile spasms

article

VALIDITY OF PARENT-COMPLETED DEVELOPMENTAL SCREENING IN CHILDREN WITH NEW-ONSET EPILEPSY BELOW THE AGE OF 3

article by Madelyn Barton et al published 18 May 2018 in Paediatrics & Child Health

Vanishing white matter disease in French-Canadian patients from Quebec

artículo científico publicado en 2014

WONOEP appraisal: new genetic approaches to study epilepsy

artículo científico publicado en 2014

Lista de obras de

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians

An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder

Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures

Chemical Stability of Morphine, Ropivacaine, and Ziconotide in Combination for Intrathecal Analgesia

Chronic inflammatory demyelinating polyneuropathy

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Efficacy and safety of lacosamide as an adjunctive therapy for refractory focal epilepsy in paediatric patients: a retrospective single-centre study

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Evolution and treatment of childhood chronic inflammatory polyneuropathy

Ex Utero Electroporation and Organotypic Slice Cultures of Embryonic Mouse Brains for Live-Imaging of Migrating GABAergic Interneurons

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis.

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy

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

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

New UPLC–MS/MS assay for the determination of tamoxifen and its metabolites in human plasma, application to patients.

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Opposing regulation of dopaminergic activity and exploratory motor behavior by forebrain and brainstem cholinergic circuits

Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation

PHACTRing in actin: actin deregulation in genetic epilepsies

Preface

Recessive mutations in VPS13D cause childhood-onset movement disorders

Remodeled cortical inhibition prevents motor seizures in generalized epilepsy

Satb1 is an activity-modulated transcription factor required for the terminal differentiation and connectivity of medial ganglionic eminence-derived cortical interneurons

Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study

The cell-intrinsic requirement of Sox6 for cortical interneuron development

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

The genetic landscape of infantile spasms

VALIDITY OF PARENT-COMPLETED DEVELOPMENTAL SCREENING IN CHILDREN WITH NEW-ONSET EPILEPSY BELOW THE AGE OF 3

Vanishing white matter disease in French-Canadian patients from Quebec

WONOEP appraisal: new genetic approaches to study epilepsy