📍EVENT NEWS
ROUEN JUNE 5, 6 & 7, 2025
2ND MYT1L FAMILIES, PHYSICIANS AND RESEARCHERS DAY
REGISTRATION is FREE AND REQUIRED, and open to all for the conference day.
The other two days, and childcare on the day of the conferences, are strictly for family members only.
HOW TO REGISTER?
CONFERENCE DAY on June 6, 25
Register on the Anddi- Rares health network link
PRESENTIAL or VIDEOCONFERENCE, IN FRENCH AND IN ENGLISH
registration required for both => Link: https://www.linscription.com/pro/activite.php?P1=190052
DAYS of June 5 and 7, 25 + HOTEL NIGHTS + workshops
Register definitively with the association Les Extra-Vaillants MYT1L.
Questionnaire to be completed and returned to: extravaillants@gmail.com
(click on the image)
Please note: all registrations are binding. If you wish to cancel, except in cases
of force majeure, you will be charged for the costs incurred.
Click on the images to open the documents in ENGLISH
HEIDELBERG, GERMANY JUNE 2025
MINI SYMPOSIUM MYT1L GENE
It's a great pleasure and honour for Les Extra-Vaillants MYT1L to be part of a dedicated Mini-symposium on MYT1L syndrome during the 4th Triennial Meeting of the International Alliance of Academies of Childhood Disability (IAACD) and the 37th Annual Meeting of the European Academy Of Childhood Disability (EACD) in Heidelberg, Germany, from June 24th to 28th, 2025.
Together with the chairs, Prof. Dr. Maja Hempel, Head of Genetic Outpatient Clinic, University Hospital Heidelberg, Germany, and Dr. Moritz Mall, research group leader, Hector Institute for Translational Brain Research at the German Cancer Research Center, we will be presenting along with Dr. Juliette Coursimault, clinical geneticist, CHU Rouen, to take part in a symposium on the role of MYT1L in health and disease at these EACD and IAACD events.
Huge gratitude to Dr Moritz Mall for his support and this incredible opportunity to promote awareness and discuss future directions for MYT1L Syndrome at this world-leading conference focused on childhood-onset disabilities.
UPCOMING EVENT IN ROUEN
JUNE 5, 6 and 7
2ND FAMILIES, PHYSICIANS AND RESEARCHERS DAY AROUND MYT1L GENE
SUPPORT US!
we need 10 550 euros
Click on the images to open the documents in french at the moment
MIEUX CONNAITRE
MIEUX COMPRENDRE
MIEUX ACCOMPAGNER
ORPHA CODE
TND linked to the MYT1L gene
-
Orphanet code to be filled in or consulted if you are a physician, health care or social welfare professional...
-
Orphanet code to be indicated if you are a caregiver or patient
SUMMARY AND DESCRIPTION AVAILABLE IN ENGLISH AND FRENCH
📍 INFORM
Magazine
Extra-Vaillants MYT1L actuality
FOCUS N°3 AVAILABLE IN ENGLISH!!
CLICK ON THE IMAGE
Practical information
while waiting for the EMERGENCY CARD and SHEET
FRENCH ONLY - Click on the image to read it. Activate the resource links using the underlined words in the document
Explain to understand
As part of the Cross Solidaire event, we produced a video explaining the syndrome and its impact, rare diseases, and the role and achievements of the Extra-vaillants MYT1L association.
US VERSION ON YOUTUBE (click on the underline word)
US PDF version !!! Click on the image
📍 NOTES
📍👉🏻 In events/actions
-
Cross solidaire des écoles du Sacré coeur et de l'Ange gardien de Domfront
The students raised over 9,000 euros for the association Les Extra-vaillants MYT1L, BRAVO !!!! and a thousand thanks!
-
Complementary project to describe eating disorders linked to the MYT1L gene
-
Collaboration with the teams of Dr Mall Moritz (Germany)
📍👉🏻 In Champions corner
-
Find out about events common to all Vaillants
-
Read stories from Vaillants and their families
-
=> VIDEOS MOMS' and DADS' WORDS...
📍👉🏻 In PUBLICATIONS : NEW RELEASES in 2023
March 2024
!! PRE-PRINT
"MYT1L deficiency impairs excitatory neuron trajectory during cortical development"
Allen Yen, Xuhua Chen, Dominic D. Skinner, Fatjon Leti, MariaLynn Crosby, Jessica Hoisington- Lopez, Yizhe Wu, Jiayang Chen, Robi D. Mitra, Joseph D. Dougherty - March 2024
November 2023
CASE REPORT
"Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant" Silas Yip, Kristina Calli, Ying Qiao, Brett Trost, Stephen W. Scherer and M. E. Suzanne Lewis - MDPI - 24 november 2023
JULY 2023
CLINICAL COMMENTARY
"MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy" Silvia Boeri, Marcello Scala, Francesca Madia, Francesca Perucco, Diego Vozzi, Valeria Capra, Federico Zara, Lino Nobili, Maria Margherita Mancardi - EPILEPTIC DISORDERS - July 2023
📍👉🏻 In support points
-
Partie 4 TRANSITION WEBSITE RARE DISEASES INFORMATION and SUMMARY SHEET
Information and support in the transition from the PEDIATRIC SECTOR to the ADULT SECTOR. An upheaval for patient and family.
-
Partie 4 HANDIGYNÉCO & INTIM AGIRIntimate life of people with disabilities: how to get support?
-
Part 3 in RECOMMENDATIONS from the French National Authority for Health
Guides to the healthcare pathway for adults and children with epilepsy, published online on 14 June 2023
📍 REMINDER
1st International Day Families, Clinicians, Researchers around
the MYT1L gene
We were 99 present at the Rouen University Hospital: children, students, families, professionals, speakers, organizers!
We were nearly 60 connected via ZOOM at the height of the day
We will be even more connected to the Replays soon available
All our sincere, enormous thanks to all the speakers of this incredible day, to the reference center for developmental anomalies of the ROUEN University Hospital, to the AndDI-Rares health sector, to the artists, to the students, to our donors (in kind, skills, financial support).
To you strangers, families, friends, association, agency, company, hotelier, entrepreneurs....
A special thought for Dr Juliette Coursimault, Anne-Marie Guérrot, François Lecoquierre and for Gwendoline Giot.
Here are some images ... many more on our YouTube channel
 |  |
|---|---|
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |  |
 |
Thankyou!!!! with all our hearts of parents and valiants!
Find the testimonies of the families on this day in "champion's corner"
Article by the team of the Clinical Genetics Unit of the CHU from Rouen whose Dr Juliette Coursimault, Dr Ann e-Marie Guerrot and Dr François Lecoquierre.
Journal Human Genetics - November 8, 2021
In-depth clinical and biological characterization of the haploinsu isance of the MYT1L gene. Literature review and description of a new cohort of 40 patients
Arcticle from Bettina Weigel, Jana F. Tegethoff, Moritz Mall, and their team, for their important work presenting the “first evidence” that MYT1L mutations alter neuronal cell fate and function, and for demonstrating that a drug commonly used for epilepsy can reverse ASD -associated phenotypes in mice and #electrophysiological abnormalities in vitro. Nature, February 2023
MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.
📣 NEW
This study highlights the interesting effect of a molecule called Lamotrigine on the behavior of mice with an anomaly in the MYT1L gene. Please note that therapeutic trials have only been carried out in mice. There are still many steps to know if it could work in humans.
The existence of the drug on the market, its already effective use in neurology and psychiatry are important factors that will save time in the study projects of the passage from mouse to human in order to define the real effectiveness. , necessary dosage and side effects for MYT1L patients.
It is likely that a new study will soon see the light of day, led by Dr. Mall's team. We should know more by summer (feasibility, cschedule, cost, coordination with the geneticists of Rouen and the association...). This opportunity should accelerate the clinical study on the behavioral disorders we have been talking about since the beginning of our collaboration with Dr. Coursimault and Dr. Guerrot.
Global representation of people affected by the syndrome
UP DATE
Information from the families who agreed to transmit the elements to the FB groups "Chromosome 2p25/ MYT1L Family Page" and "Les Extra-Vaillants - MYT1L ".
These data were processed anonymously.
They offer an interesting vision, but much lower than the reality of the diagnoses.
UPDATE FRANCE to NOVEMBER 2023 vs April 2022 :
- X 2 between 2022 and 2023
- X 3.7 between 2021 and 2023
UPDATE INTERNATIONAL APRIL 2022 vs October 2021
- + 40% of patients identified World
- + 51% of patients identified Europe
- + 85% of patients identified France
Find the April 2022 update, and the complete file to October 2021.
