Audrey Labalme
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View article: Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome
Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome Open
Kohlschütter‐Tönz Syndrome (KTS) is an ultra‐rare autosomal recessive disorder, characterized by a clinical triad: infantile‐onset epilepsy, global developmental delay, and amelogenesis imperfecta. KTS is caused by pathogenic variants in R…
View article: Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) Open
View article: Idiopathic generalized epilepsy in a family with <i>SCN4A</i>‐related myotonia
Idiopathic generalized epilepsy in a family with <i>SCN4A</i>‐related myotonia Open
Objectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic …
View article: <i>GRIN1</i> variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms
<i>GRIN1</i> variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms Open
Objective N ‐methyl‐ d ‐aspartate (NMDA) receptors are expressed at synaptic sites, where they mediate fast excitatory neurotransmission. NMDA receptors are critical to brain development and cognitive function. Natural variants to the GRIN…
View article: Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing Open
Sexual development is a complex process relying on numerous genes. Disruptions in some of these genes are known to cause differences of sexual development (DSDs). Advances in genome sequencing allowed the discovery of new genes implicated …
View article: Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies Open
DFG/FNR Research Unit FOR-2715 (Germany/Luxemburg), BMBF rare disease network Treat-ION (Germany), foundation 'no epilep' (Germany).
View article: Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes
Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes Open
Pathogenic variants in KCNQ2 encoding for Kv7.2 potassium channel subunits have been found in patients affected by widely diverging epileptic phenotypes, ranging from Self-Limiting Familial Neonatal Epilepsy (SLFNE) to severe Developmental…
View article: Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy
Gain of function due to increased opening probability by two <i>KCNQ5</i> pore variants causing developmental and epileptic encephalopathy Open
Significance Variants in genes encoding neuronally expressed potassium channel subunits are frequent causes of developmental and epileptic encephalopathies (DEEs). Characterization of their functional consequences is critical to confirm di…
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: Description of a novel patient with the TRPM3 recurrent p.Val837Met variant
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant Open
View article: DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling
DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling Open
Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated to a lupus phenotype. It is unclear w…
View article: Loss-of-function variants in the <i>KCNQ5</i> gene are associated with genetic generalized epilepsies
Loss-of-function variants in the <i>KCNQ5</i> gene are associated with genetic generalized epilepsies Open
Objective De novo missense variants in KCNQ5 , encoding the voltage-gated K + channel K V 7.5, have been described as a cause of developmental and epileptic encephalopathy (DEE) or intellectual disability (ID). We set out to identify disea…
View article: Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Open
View article: NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism Open
View article: Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of <scp><i>SLC7A6OS</i></scp>
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of <span><i>SLC7A6OS</i></span> Open
Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A > G variant affecting a splice site in SLC7A6OS . Analysis of cDNA from ly…
View article: Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy Open
View article: Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Open
Purpose We describe a novel neurobehavioral syndrome of autism spectrum disorder, intellectual disability, and attention deficit/hyperactivity disorder associated with de novo or inherited deleterious variants in members of the RFX family …
View article: Mandibular‐pelvic‐patellar syndrome is a novel <i>PITX1</i>‐related disorder due to alteration of PITX1 transactivation ability
Mandibular‐pelvic‐patellar syndrome is a novel <i>PITX1</i>‐related disorder due to alteration of PITX1 transactivation ability Open
PITX1 is a homeobox transcription factor essential for hindlimb morphogenesis. Two PITX1 ‐related human disorders have been reported to date: PITX1 ectopic expression causes Liebenberg syndrome, characterized by malformation of upper limbs…
View article: Early‐onset epileptic encephalopathy with migrating focal seizures associated with a <i>FARS2</i> homozygous nonsense variant
Early‐onset epileptic encephalopathy with migrating focal seizures associated with a <i>FARS2</i> homozygous nonsense variant Open
Epilepsy of infancy with migrating focal seizures (EIMFS) is now a well‐recognized early‐onset syndrome included in the ILAE classification of the epilepsies. KCNT1 gain‐of‐function variants are identified in about half of patients. In the…
View article: Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes Open
View article: Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 Open
View article: Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy Open
Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door t…
View article: Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment Open
View article: Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report
Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report Open
Background The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic muta…
View article: A genome-wide DNA methylation signature for SETD1B-related syndrome
A genome-wide DNA methylation signature for SETD1B-related syndrome Open
View article: Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism Open
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genet…
View article: Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature
Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature Open
Background Pallister–Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic f…
View article: A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants
A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants Open
Polymicrogyria is a malformation of cortical development. Chatron et al. describe four patients with a lethal syndromic polymicrogyria with necrotic and calcified areas in the basal ganglia, dentato-olivary dysplasia and severe hypoplasia/…
View article: A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset
A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset Open
View article: How to detect mobile retrocopies during routine genetic testing and manage pitfalls
How to detect mobile retrocopies during routine genetic testing and manage pitfalls Open