Researcher
Gaëtan Lesca
Université Claude Bernard Lyon 1 / Hospices Civils de Lyon
Statistics
233 papers found
Papers authored by Gaëtan Lesca
Refreshing results…
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
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,
Linda Pons
and 43 other authors
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
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,
Maud Tusseau,
Marie-Claude Stolzenberg,
Fabienne Mazerolles,
Nathalie Aladjidi,
Martin Armstrong,
Houman Ashrafian,
Ioana Cutcutache,
Georg Ebetsberger-Dachs,
Katherine S. Elliott ,
Isabelle Durieu,
Nicole Fabien,
Mathieu Fusaro,
Maximilian Heeg
and 28 other authors
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
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,
Audrey Labalme,
Betül Baykan,
Mikko Muona,
Tarja H. Joensuu,
Carolina Courage,
Nicolas Chatron,
Giuseppe Borsani,
Eudeline Alix,
Francis Ramond,
Renaud Touraine,
Melanie Bahlo,
Nerses Bebek,
Samuel F. Berkovic
and 2 other authors
Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS
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Paola De Liso,
Elena Freri,
Paola Costa ,
Barbara Castellotti,
Stefania Magri,
Cinzia Gellera,
Tiziana Granata ,
Luciana Musante,
Gaetan Lesca ,
Julie Oertel,
Dana Craiu,
Trine B. Hammer,
Rikke S. Møller ,
Nina Barisic
and 4 other authors
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,
Mathieu Kuchenbuch ,
Giulia Barcia,
Amy Schneider,
Mélanie Jennesson,
Gwenaël Le Guyader,
Gaetan Lesca ,
Cyril Mignot,
Martino Montomoli,
Elena Parrini,
Hervé Isnard,
Anne Rolland,
Boris Keren,
Alexandra Afenjar,
Nathalie Dorison
and 46 other authors
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
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Elena Freri,
Paolo Ambrosino ,
Ilaria Rivolta ,
Ilaria Mosca,
Anna Binda,
Carmen Murano ,
Francesca Ragona,
Laura Canafoglia ,
Chiara Vannicola,
Roberta Solazzi,
Tiziana Granata,
Barbara Castellotti ,
Giuliana Messina ,
Cinzia Gellera
and 4 other authors
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
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,
Alicia Besson,
Audrey Putoux,
Claire Benetollo,
Clément Saccaro,
Justine Guguin,
Gabriel Sala,
Audric Cologne,
Marion Delous,
Gaetan Lesca ,
Richard A. Padgett,
Anne-Louise Leutenegger,
Vincent Lacroix,
Patrick Edery,
Sylvie Mazoyer
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
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,
Alessandro Ferretti,
Elizabeth Bebin ,
Linda Huh,
Gaetan Lesca ,
Aleksandra Siekierska,
Ryo Takeguchi,
Maryline Carneiro,
Luca De Palma ,
Ilaria Guella,
Kazuhiro Haginoya,
Ruo Ming Shi,
Atsuo Kikuchi,
Tomoko Kobayashi,
Julien Jung
and 18 other authors
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
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Diana Rodriguez ,
Cécile Cazeneuve,
Fanny Mochel ,
David Devos ,
Agnese Suppiej ,
Agathe Roubertie ,
Isabelle Meunier ,
Cyril Gitiaux ,
Aurore Curie ,
Frédéric Klapczynski,
Nouha Allani‐Essid,
Maryline Carneiro,
Rick Van Minkelen,
Anneke Kievit
and 19 other authors
Deciphering the natural history of SCA7 in children
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,
Alexej Knaus,
Manuela Pendziwiat,
Alexandra Afenjar,
Tahsin Stefan Barakat ,
Tahsin Stefan Barakat,
Friedrich Bosch,
Bert Callewaert,
Patrick Calvas,
Berten Ceulemans,
Nicolas Chassaing,
Christel Depienne,
Milda Endziniene,
Carlos R. Ferreira,
Carolina Fischinger Moura de Souza
and 41 other authors
Lessons learned from 40 novel PIGA patients and a review of the literature
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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
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