Éric Leguern
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View article: The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis Open
Background Epileptic disorders are a heterogeneous group of neurological conditions, with many cases linked to monogenic causes, particularly in developmental and epileptic encephalopathies (DEE). Identifying pathogenic variants aids treat…
View article: Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy
Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy Open
View article: Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism Open
View article: Genetic Insights Into Hypothalamic Hamartoma
Genetic Insights Into Hypothalamic Hamartoma Open
Our findings reinforce the role of somatic variants in Shh and cilia genes in HH cases while also shedding light on TNK2 as a potential novel disease-causing gene. This study emphasizes the increasing importance of brain mosaicism i…
View article: Long‐Read Sequencing Unravels the Complexity of Structural Variants in <scp><i>PRKN</i></scp> in Two Individuals with Early‐Onset Parkinson's Disease
Long‐Read Sequencing Unravels the Complexity of Structural Variants in <span><i>PRKN</i></span> in Two Individuals with Early‐Onset Parkinson's Disease Open
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View article: Long-read sequencing unravels the complexity of structural variants in<i>PRKN</i>in two individuals with early-onset Parkinson’s disease
Long-read sequencing unravels the complexity of structural variants in<i>PRKN</i>in two individuals with early-onset Parkinson’s disease Open
Background PRKN biallelic pathogenic variants are the most common cause of autosomal recessive early-onset Parkinson’s disease (PD). However, the variants responsible for suspected PRKN- PD individuals are not always identified with standa…
View article: Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Open
View article: Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Open
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineag…
View article: <i>ARF1</i>-related disorder: phenotypic and molecular spectrum
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum Open
Purpose ARF1 was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of th…
View article: A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing Open
Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot–Marie–Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) in this paper. With over 1…
View article: The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies Open
View article: Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy Open
Background: Genetic generalized epilepsies (GGE) including childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and GGE with tonic–clonic seizures alone (GGE-TCS), are common types of epilep…
View article: Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome Open
De novo missense variants in KCNH1 encoding Kv10.1 are responsible for two clinically recognisable phenotypes: Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS). The clinical overlap between these two syndromes suggests …
View article: Expanding the Spectrum of <scp><i>AP5Z1‐</i></scp>Related Hereditary Spastic Paraplegia (<scp>HSP‐SPG48</scp>): A Multicenter Study on a Rare Disease
Expanding the Spectrum of <span><i>AP5Z1‐</i></span>Related Hereditary Spastic Paraplegia (<span>HSP‐SPG48</span>): A Multicenter Study on a Rare Disease Open
Biallelic mutations in AP5Z1 are known to cause a rare, autosomal-recessive, complex form of hereditary spastic paraplegia (HSP) referred to as SPG48 (MIM#613647).1 To date, only 11 SPG48 patients have been reported. The clinical spectrum …
View article: <scp><i>RNF170</i></scp>‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
<span><i>RNF170</i></span>‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation Open
Background Spastic paraparesis and biallelic variants functionally characterized as deleterious in the RNF170 gene have recently been reported by Wagner et al. 2019, strongly supporting the involvement of this gene in hereditary spastic pa…
View article: Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis Open
View article: Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience
Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience Open
View article: Three novel patients with epileptic encephalopathy due to biallelic mutations in the <scp> <i>PLCB1</i> </scp> gene
Three novel patients with epileptic encephalopathy due to biallelic mutations in the <span> <i>PLCB1</i> </span> gene Open
Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. We report here three addition…
View article: Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 Open
View article: Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 Open
View article: The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency
The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency Open
View article: A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy Open
View article: Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures Open
View article: Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish Open
View article: <i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond Open
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN chan…
View article: Correction: The landscape of epilepsy-related GATOR1 variants
Correction: The landscape of epilepsy-related GATOR1 variants Open
View article: Correction to: The landscape of epilepsy-related GATOR1 variants
Correction to: The landscape of epilepsy-related GATOR1 variants Open
View article: The landscape of epilepsy-related GATOR1 variants
The landscape of epilepsy-related GATOR1 variants Open
View article: Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Open
View article: Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy Open
DEP domain-containing 5 protein (DEPDC5) is a repressor of the recently recognized amino acid-sensing branch of the mTORC1 pathway. So far, its function in the brain remains largely unknown. Germline loss-of-function mutations in DEPDC5 ha…