📍 NOTE
📍👉🏻 In events/actions
-
Complementary project to describe eating disorders linked to the MYT1L gene
-
Collaboration with the teams of Dr Mall Moritz (Germany)
"STEP BY GAN" solidarity challenge GAN Assurances with the support of the GROUPAMA FOUNDATION
A huge thank you to all Gan Assurances employees for their generosity, their support and the opportunities opened for our Valiant carriers of a rare neurodevelopmental disorder linked to the MYT1L gene! Thank you to the Groupama Foundation for their unwavering commitment to Rare Diseases
-
TELETHON 2024 - RARE DISEASES WALK
📍👉🏻 In the champions' corner
-
Amel's testimony on the importance of research
-
International Rare Disease Day 2025
Testimonials and presentation of clinical research into MYT1L syndrome by Dr Juliette Coursimault at Rouen University Hospital
-
Find out about events common to all Vaillants
-
Read stories from Vaillants and their families
-
=> VIDEOS MOMS' and DADS' WORDS...
📍👉🏻 In PUBLICATIONS : NEW RELEASES 2023/2025
MARCH 2025
RESEARCH ARTICLE
"Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling"
François Lecoquierre ,Nathalie Drouot,Sophie Coutant,Olivier Quenez,Steeve Fourneaux,Fanny Jumeau,Nathalie Rives,Françoise Charbonnier,Céline Derambure,Anne Boland,Robert Olaso,Vincent Meyer,Jean-François Deleuze, [ ... ],Gaël Nicolas - March 31, 2025
FEBRUARY 2025
SCIENTIFIC REPORT
“Lifespan in rodents with MYT1L heterozygous mutation”
Allyson Schreiber , Raylynn G. Swift , Leslie Wilson , Kristen L. Kroll , Joseph D. Dougherty & Susan E. Maloney - NATURE - February 10, 2025
NOVEMBER 2024
"MYT1L deficiency impairs excitatory neuron trajectory during cortical development" Allen Yen, Simona Sarafinovska, Xuhua Chen, Dominic D. Skinner, Fatjon Leti, MariaLynn Crosby, Jessica Hoisington-Lopez, Yizhe Wu, Jiayang Chen, Zipeng A. Li, Kevin K. Noguchi, Robi D. Mitra & Joseph D. Dougherty - NATURE- 27 November 2024
📍👉🏻 In support points
-
Families MYT1L : THE MYT1L PROJECT
Creation of a foundation in the USA, the MYT1L elephant family expands! a huge delight.
Devices and tools : PNMR 4
New National Plan for Rare Diseases 4 - 2025/2030
Part 4 STITE TRANSITION RARE DISEASES INFORMATION and PRACTICAL SHEET MYT1L
Information and support in the transition from the PEDIATRIC SECTOR to the ADULT SECTOR. An upheaval for the patient and the family.
-
Part 4 HANDIGYNECO AND INTIM ACT
Private life of people with disabilities: how to get support?
-
Part 4 in RECOMMENDATIONS of the High Authority of Health
Health pathway guides for adults and children with epilepsy, posted online on June 14, 2023
