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Article ; Online: Mouse models of Kcnq2 dysfunction.

Brun, Lucile / Viemari, Jean-Charles / Villard, Laurent

2022 Volume 63, Issue 11, Page(s) 2813–2826

Abstract: Variants in the Kv7.2 channel subunit encoded by the KCNQ2 gene cause epileptic disorders ranging from a benign form with self-limited epileptic seizures and normal development to severe forms with intractable epileptic seizures and encephalopathy. The ... ...

Abstract	Variants in the Kv7.2 channel subunit encoded by the KCNQ2 gene cause epileptic disorders ranging from a benign form with self-limited epileptic seizures and normal development to severe forms with intractable epileptic seizures and encephalopathy. The biological mechanisms involved in these neurological diseases are still unclear. The disease remains intractable in patients affected by the severe form. Over the past 20 years, KCNQ2 models have been developed to elucidate pathological mechanisms and to identify new therapeutic targets. The diversity of Kcnq2 mouse models has proven invaluable to access neuronal networks and evaluate the associated cognitive deficits. This review summarizes the available models and their contribution to our current understanding of KCNQ2 epileptic disorders.
MeSH term(s)	Mice ; Animals ; KCNQ2 Potassium Channel/genetics ; Mutation ; Seizures/genetics ; Brain Diseases/genetics ; Disease Models, Animal ; Nerve Tissue Proteins/genetics
Chemical Substances	KCNQ2 Potassium Channel ; Kcnq2 protein, mouse ; Nerve Tissue Proteins
Language	English
Publishing date	2022-09-27
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17405
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Article ; Online: Rett syndrome: think outside the (skull) box.

Borloz, Emilie / Villard, Laurent / Roux, Jean-Christophe

Faculty reviews

2021 Volume 10, Page(s) 59

Abstract: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder characterized by neurodevelopmental regression between 6 and 18 months of life and associated with multi-system comorbidities. Caused mainly by pathogenic variants in ... ...

Abstract	Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder characterized by neurodevelopmental regression between 6 and 18 months of life and associated with multi-system comorbidities. Caused mainly by pathogenic variants in the
Language	English
Publishing date	2021-06-29
Publishing country	England
Document type	Journal Article ; Review
ISSN	2732-432X
ISSN (online)	2732-432X
DOI	10.12703/r/10-59
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Article ; Online: Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE.

Brun, Lucile / Borloz, Emilie / Felix, Marie-Solenne / Louis Durand, Jordane / Villard, Laurent

Epilepsy research

2023 Volume 193, Page(s) 107160

Abstract: Purpose: KCNQ2 neonatal developmental and epileptic encephalopathy (NEO-DEE) is characterized by intractable seizures accompanied by an abnormal neurodevelopment. In a mouse model of NEO-DEE carrying the p.(Thr274Met) variant of Kcnq2, spontaneous ... ...

Abstract	Purpose: KCNQ2 neonatal developmental and epileptic encephalopathy (NEO-DEE) is characterized by intractable seizures accompanied by an abnormal neurodevelopment. In a mouse model of NEO-DEE carrying the p.(Thr274Met) variant of Kcnq2, spontaneous generalized seizures occur unexpectedly preventing controlled studies and highlighting the necessity for a customized setup to trigger seizures on demand. We aimed to obtain a stable and objective read-out to control the efficacy of new antiepileptic drugs or to test seizure susceptibility. We developed a protocol to trigger ultrasound-induced seizures (UIS) on demand in this model. Methods: We tested the ability of our protocol to induce seizures at four developmental stages in the Kcnq2 Results: We show that the UIS have the same phenotypic expression and the same severity as spontaneous generalized seizures (SGS) in the Kcnq2-NEO-DEE mouse model. The developmental period during which mice exhibit SGS corresponds to the period during which Kcnq2 Conclusion: This study provides a non-invasive and easy to use method to induce seizures in a Kcnq2-NEO-DEE mouse model and documents early neuronal activation in specific brain regions. This method can be used to test the efficacy of new antiepileptic approaches for this intractable form of genetic epilepsy.
MeSH term(s)	Mice ; Animals ; Mutation ; Seizures/diagnostic imaging ; Seizures/genetics ; Epilepsy/genetics ; Brain Diseases/genetics ; Epilepsy, Generalized ; Anticonvulsants ; Disease Models, Animal ; KCNQ2 Potassium Channel/genetics ; Nerve Tissue Proteins/metabolism
Chemical Substances	Anticonvulsants ; KCNQ2 Potassium Channel ; Kcnq2 protein, mouse ; Nerve Tissue Proteins
Language	English
Publishing date	2023-05-03
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	632939-1
ISSN	1872-6844 ; 0920-1211
ISSN (online)	1872-6844
ISSN	0920-1211
DOI	10.1016/j.eplepsyres.2023.107160
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Article ; Online: NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Mignon-Ravix, Cécile / Riccardi, Florence / Daquin, Géraldine / Cacciagli, Pierre / Lamoureux-Toth, Sylvie / Villard, Laurent / Villeneuve, Nathalie / Molinari, Florence

Epilepsia

2023 Volume 64, Issue 6, Page(s) e127–e134

Abstract: Developmental and epileptic encephalopathies (DEE) are a group of neurodevelopmental disorders characterized by epileptic seizures associated with developmental delay or regression. DEE are genetically heterogeneous, and the proteins involved play roles ... ...

Abstract	Developmental and epileptic encephalopathies (DEE) are a group of neurodevelopmental disorders characterized by epileptic seizures associated with developmental delay or regression. DEE are genetically heterogeneous, and the proteins involved play roles in multiple pathways such as synaptic transmission, metabolism, neuronal development or maturation, transcriptional regulation, and intracellular trafficking. We performed whole exome sequencing on a consanguineous family with three children presenting an early onset (<6 months) with clusters of seizures characterized by oculomotor and vegetative manifestations, with an occipital origin. Before 1 year of age, interictal electroencephalographic recordings were well organized and neurodevelopment was unremarkable. Then, a severe regression occurred. We identified a novel homozygous protein-truncating variant in the NAPB (N-ethylmaleimide-sensitive fusion [NSF] attachment protein beta) gene that encodes the βSNAP protein, a key regulator of NSF-adenosine triphosphatase. This enzyme is essential for synaptic transmission by disassembling and recycling proteins of the SNARE complex. Here, we describe the electroclinical profile of each patient during the disease course. Our findings strengthen the association between biallelic variants in NAPB and DEE and refine the associated phenotype. We suggest including this gene in the targeted epilepsy gene panels used for routine diagnosis of unexplained epilepsy.
MeSH term(s)	Humans ; Epilepsy/diagnosis ; Epilepsy/genetics ; Seizures/genetics ; Neurodevelopmental Disorders/genetics ; Homozygote ; Electroencephalography ; Phenotype
Language	English
Publishing date	2023-04-17
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17603
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Article ; Online: MECP2 mutations in males.

Villard, Laurent

Journal of medical genetics

2007 Volume 44, Issue 7, Page(s) 417–423

Abstract: Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked ...

Abstract	Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were initially thought to be lethal in males. However, MECP2 mutations are now frequently identified in mentally retarded male patients. The frequency of disease-causing MECP2 mutations in this population is between 1.3% and 1.7%. Surprisingly, MECP2 mutations in males are responsible for a wide spectrum of neurological disorders, ranging from mild mental retardation to severe neonatal encephalopathy. The aim of this review is to describe the nature of the MECP2 mutations identified in male patients to date and their associated phenotypes.
MeSH term(s)	Genetic Testing ; Humans ; Intellectual Disability/genetics ; Male ; Methyl-CpG-Binding Protein 2/genetics ; Mutation/genetics ; Phenotype
Chemical Substances	MECP2 protein, human ; Methyl-CpG-Binding Protein 2
Language	English
Publishing date	2007-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg.2007.049452
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Zs.A 177: Show issues

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Article ; Online: Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Khosrowabadi, Elham / Mignon-Ravix, Cécile / Riccardi, Florence / Cacciagli, Pierre / Desnous, Béatrice / Sigaudy, Sabine / Milh, Mathieu / Villard, Laurent / Kjellén, Lena / Molinari, Florence

Human molecular genetics

2023 Volume 33, Issue 6, Page(s) 520–529

Abstract: Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome sequencing performed in two independent families identified ...

Abstract	Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome sequencing performed in two independent families identified the same missense variant, p.(Gly611Ser), in the NDST1 (N-deacetylase/N-sulfotransferase member 1) gene. This variant had been previously found in ID patients of two other families but has never been functionally characterized. The NDST1 gene encodes a bifunctional enzyme that catalyzes both N-deacetylation and N-sulfation of N-acetyl-glucosamine residues during heparan sulfate (HS) biosynthesis. This step is essential because it influences the downstream enzymatic modifications and thereby determines the overall structure and sulfation degree of the HS polysaccharide chain. To discriminate between a rare polymorphism and a pathogenic variant, we compared the enzymatic properties of wild-type and mutant NDST1 proteins. We found that the p.(Gly611Ser) variant results in a complete loss of N-sulfotransferase activity while the N-deacetylase activity is retained. NDST1 shows the highest and the most homogeneous expression in the human cerebral structures compared to the other members of the NDST gene family. These results indicate that a loss of NDST1 N-sulfation activity is associated with impaired cognitive functions.
MeSH term(s)	Humans ; Intellectual Disability/genetics ; Acetylglucosamine ; Cognition ; Inheritance Patterns ; Mutant Proteins ; Sulfotransferases/genetics
Chemical Substances	Acetylglucosamine (V956696549) ; Mutant Proteins ; Sulfotransferases (EC 2.8.2.-)
Language	English
Publishing date	2023-12-19
Publishing country	England
Document type	Journal Article
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddad203
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Zs.A 3469: Show issues

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Article ; Online: TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.

Abaji, Mario / Mignon-Ravix, Cécile / Gorokhova, Svetlana / Cacciagli, Pierre / Mortreux, Jérémie / Molinari, Florence / Chabrol, Brigitte / Sigaudy, Sabine / Villard, Laurent / Riccardi, Florence

Journal of medical genetics

2023 Volume 60, Issue 10, Page(s) 1021–1025

Abstract: The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins ... ...

Abstract	The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic variants in 8 genes (of 14) encoding TRAPP proteins are involved in ultra-rare human diseases, called TRAPPopathies. Seven of them are autosomal recessive neurodevelopmental disorders with overlapping phenotypes. Since 2018, two homozygous missense variants in
MeSH term(s)	Humans ; Homozygote ; Mutation, Missense ; Neurodevelopmental Disorders/genetics ; Phenotype ; Seizures
Chemical Substances	TRAPPC2 protein, human
Language	English
Publishing date	2023-02-27
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmg-2022-108677
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Article ; Online: The M-current works in tandem with the persistent sodium current to set the speed of locomotion.

Verneuil, Jérémy / Brocard, Cécile / Trouplin, Virginie / Villard, Laurent / Peyronnet-Roux, Julie / Brocard, Frédéric

PLoS biology

2020 Volume 18, Issue 11, Page(s) e3000738

Abstract: The central pattern generator (CPG) for locomotion is a set of pacemaker neurons endowed with inherent bursting driven by the persistent sodium current (INaP). How they proceed to regulate the locomotor rhythm remained unknown. Here, in neonatal rodents, ...

Abstract	The central pattern generator (CPG) for locomotion is a set of pacemaker neurons endowed with inherent bursting driven by the persistent sodium current (INaP). How they proceed to regulate the locomotor rhythm remained unknown. Here, in neonatal rodents, we identified a persistent potassium current critical in regulating pacemakers and locomotion speed. This current recapitulates features of the M-current (IM): a subthreshold noninactivating outward current blocked by 10,10-bis(4-pyridinylmethyl)-9(10H)-anthracenone dihydrochloride (XE991) and enhanced by N-(2-chloro-5-pyrimidinyl)-3,4-difluorobenzamide (ICA73). Immunostaining and mutant mice highlight an important role of Kv7.2-containing channels in mediating IM. Pharmacological modulation of IM regulates the emergence and the frequency regime of both pacemaker and CPG activities and controls the speed of locomotion. Computational models captured these results and showed how an interplay between IM and INaP endows the locomotor CPG with rhythmogenic properties. Overall, this study provides fundamental insights into how IM and INaP work in tandem to set the speed of locomotion.
MeSH term(s)	Animals ; Animals, Newborn/metabolism ; Animals, Newborn/physiology ; Anthracenes/pharmacology ; Central Pattern Generators/metabolism ; Central Pattern Generators/physiology ; KCNQ2 Potassium Channel/genetics ; KCNQ2 Potassium Channel/metabolism ; Locomotion/physiology ; Male ; Mice, Inbred C57BL ; Motor Neurons/metabolism ; Motor Neurons/physiology ; Neurons/physiology ; Potassium/metabolism ; Potassium Channels/metabolism ; Rats ; Rats, Wistar ; Sodium/metabolism ; Sodium Channels/metabolism ; Sodium Channels/physiology ; Spinal Cord/physiology ; Walking/physiology
Chemical Substances	10,10-bis(4-pyridinylmethyl)-9(10H)-anthracenone ; Anthracenes ; KCNQ2 Potassium Channel ; Potassium Channels ; Sodium Channels ; Sodium (9NEZ333N27) ; Potassium (RWP5GA015D)
Language	English
Publishing date	2020-11-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2126776-5
ISSN	1545-7885 ; 1544-9173
ISSN (online)	1545-7885
ISSN	1544-9173
DOI	10.1371/journal.pbio.3000738
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Article ; Online: Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome.

Matagne, Valerie / Borloz, Emilie / Ehinger, Yann / Saidi, Lydia / Villard, Laurent / Roux, Jean-Christophe

Neurobiology of disease

2020 Volume 149, Page(s) 105235

Abstract: Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent genetic cause of intellectual disability in girls, and there is ... ...

Abstract	Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second most prevalent genetic cause of intellectual disability in girls, and there is currently no cure for the disease. We have previously shown that gene therapy using a self-complementary AAV9 viral vector expressing a codon-optimized Mecp2 version (AAV9-MCO) significantly improved symptoms and increased survival in male Mecp2-deficient mice. Here, we pursued our studies and investigated the safety and efficacy of long-term gene therapy in the genetically relevant RTT mouse model: the heterozygous (HET) Mecp2 deficient female mouse. These mice were injected with the AAV9-MCO vector through the tail vein and an array of behavioral tests was performed. At 16- and 30-weeks post-injection, this treatment was able to rescue apneas and improved the spontaneous locomotor deficits and circadian locomotor activity in Mecp2 HET mice treated with AAV9-MCO at a dose of 5 × 10
MeSH term(s)	Adenoviridae/genetics ; Administration, Intravenous ; Animals ; Disease Models, Animal ; Female ; Genetic Therapy/methods ; Genetic Vectors/administration & dosage ; Genetic Vectors/genetics ; Methyl-CpG-Binding Protein 2/deficiency ; Methyl-CpG-Binding Protein 2/genetics ; Mice ; Mice, 129 Strain ; Mice, Inbred C57BL ; Mice, Transgenic ; Rett Syndrome/genetics ; Rett Syndrome/metabolism ; Rett Syndrome/therapy
Chemical Substances	Mecp2 protein, mouse ; Methyl-CpG-Binding Protein 2
Language	English
Publishing date	2020-12-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2020.105235
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Article: Rett syndrome from bench to bedside: recent advances.

Ehinger, Yann / Matagne, Valerie / Villard, Laurent / Roux, Jean-Christophe

F1000Research

2018 Volume 7, Page(s) 398

Abstract: Rett Syndrome is a severe neurological disorder mainly due ... ...

Abstract	Rett Syndrome is a severe neurological disorder mainly due to
Language	English
Publishing date	2018
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2699932-8
ISSN	2046-1402
ISSN	2046-1402
DOI	10.12688/f1000research.14056.1
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