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List of works by Elsa Rossignol

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

scientific article

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

scientific article

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

scientific article published in October 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

scientific article published on 4 March 2015

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

scientific article

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

scientific article published on July 2017

Chronic inflammatory demyelinating polyneuropathy

scientific article published on 01 January 2013

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

scientific article

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

scientific article published on 01 August 2019

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

scientific article published on 27 November 2014

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

scientific article

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

scientific article published on 20 April 2018

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

scientific article published on 06 December 2020

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

scientific article published on 18 December 2017

Genetics and Function of Neocortical GABAergic Interneurons in Neurodevelopmental Disorders ⬇️

scientific article published on August 18, 2011

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

scientific article published on 09 April 2018

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

scientific article published in November 2017

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

scientific article published on 12 September 2018

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

scientific article

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

scientific article

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.

scientific article

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

scientific article published on 12 March 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

scientific article

PHACTRing in actin: actin deregulation in genetic epilepsies

scientific article published on 01 November 2018

Preface

Recessive mutations in VPS13D cause childhood-onset movement disorders

scientific article published on 8 March 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

scientific article published on December 2012

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

scientific article published on 28 July 2020

The cell-intrinsic requirement of Sox6 for cortical interneuron development

scientific article

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

scientific article published on 01 February 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

scientific article

WONOEP appraisal: new genetic approaches to study epilepsy

scientific article

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