NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant

Autor: Cécile Mignon‐Ravix, Florence Riccardi, Géraldine Daquin, Pierre Cacciagli, Sylvie Lamoureux‐Toth, Laurent Villard, Nathalie Villeneuve, Florence Molinari

Publikováno v: Epilepsia
Epilepsia, 2023, ⟨10.1111/epi.17603⟩

International audience; 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 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b63f2e0ace9f5e86a37281d4687fe51f
https://hal-amu.archives-ouvertes.fr/hal-04072437

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

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

Publikováno v: Journal of Medical Genetics. :jmedgenet-2022

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 protein

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7e607afca355e2bbc1570288b46060f
https://doi.org/10.1136/jmg-2022-108677

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria

Autor: Emmanuelle Buhler, Bruria Ben Zeev, Bilal El Waly, Laurent Villard, Pierre Cacciagli, Cécile Mignon-Ravix

Publikováno v: Eur J Hum Genet
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, 28, pp.1703-1713. ⟨10.1038/s41431-020-0659-z⟩
European Journal of Human Genetics, 2020, 28, pp.1703-1713. ⟨10.1038/s41431-020-0659-z⟩

International audience; While chromosome 1p36 deletion syndrome is one of the most common terminal subtelomeric microdeletion syndrome, 1p36 microduplications are rare events. Polymicrogyria (PMG) is a brain malformation phenotype frequently present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a635e61f503b4f160d980baf088dff
https://pubmed.ncbi.nlm.nih.gov/32488097

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

Autor: Florence Riccardi, Jens Daniel, Eva Liebau, Mathieu Milh, Pierre Cacciagli, Laurent Villard, Majdi Nagara, Charlotte Sophia Kaiser, Tiffany Busa, Cécile Mignon-Ravix

Publikováno v: Human Mutation
Human Mutation, Wiley, 2018, 39 (7), pp.934-938. ⟨10.1002/humu.23534⟩

International audience; Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his parents. In the proband, we id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca30ee09c259c2b2d3791ba9b249904
https://pubmed.ncbi.nlm.nih.gov/29663568

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

Autor: Mathieu Milh, Pierre Cacciagli, Brigitte Chabrol, Cécile Mignon-Ravix, Laurent Villard, Nathalie Villeneuve, Affef Abidi

Publikováno v: European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2017, 21 (5), pp.783-786. ⟨10.1016/j.ejpn.2017.04.001⟩
European Journal of Paediatric Neurology, Elsevier, 2017, 21 (5), pp.783-786. ⟨10.1016/j.ejpn.2017.04.001⟩

Introduction/objectives We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a40a2eccaae08898c2de827d4b798d91
https://hal-amu.archives-ouvertes.fr/hal-01668649