List of works - Christel Depienne

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

scientific article published on 09 November 2020

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

scientific article published on 04 May 2020

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

scientific article

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

scientific article published in February 2009

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

scientific article published on 01 August 2019

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

scientific article

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

scientific article published on 20 March 2020

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

scientific article

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

scientific article published on 20 November 2009

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

scientific article published on 10 November 2006

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

scientific article published on 4 April 2017

Genetic association signal near NTN4 in Tourette syndrome

scientific article

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Hereditary spastic paraplegias: an update

scientific article

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

scientific article published on 12 September 2018

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

scientific article published on 01 March 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

scientific article published on 19 July 2016

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

scientific article published on 22 February 2018

Mental deficiency in three families with SPG4 spastic paraplegia

scientific article published on 24 October 2007

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

scientific article published on 13 December 2007

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

scientific article published on 15 May 2020

Mutations in the netrin-1 gene cause congenital mirror movements

scientific article

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

scientific article

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder ⬇️

scientific article published on February 14, 2012

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

scientific article published on June 2017

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

The phenotypic spectrum of SCN8A encephalopathy

scientific article

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

scientific article

Unlocking the genetics of paroxysmal kinesigenic dyskinesia ⬇️

scientific article published on December 1, 2011

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

List of works by Christel Depienne

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Analysis of shared heritability in common disorders of the brain

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

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

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

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

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10.

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Genetic association signal near NTN4 in Tourette syndrome

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Hereditary spastic paraplegias: an update

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

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Lessons learned from 40 novel PIGA patients and a review of the literature

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

Mental deficiency in three families with SPG4 spastic paraplegia

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Mutations in the netrin-1 gene cause congenital mirror movements

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder ⬇️

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

The phenotypic spectrum of SCN8A encephalopathy

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Unlocking the genetics of paroxysmal kinesigenic dyskinesia ⬇️

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3