top of page

  📍 FAMILIES

INFORMATIONS

Capture d’écran 2024-04-16 à 18.33.17.png

2ND INTERNATIONAL DAY FOR FAMILIES, CLINICIANS AND RESEARCHERS
around the MYT1L GENE
JUNE 6, 2025 ROUEN, FRANCE

This second event requires anticipation to welcome and connect as many families as possible in France and abroad. It will take place on June 5, 6 and 7, 2025 in Rouen.
The day-long conference will be accessible live, with simultaneous translation into English.

As for the first edition, we will do our utmost to keep costs down for families, notably by covering the cost of hotels, entertainment and certain meals.

REPORT THE SURVEYS ON INTERNATIONAL FB PAGE to anticipate the necessary reservations (translators, hotels, supervision, activities....) OR BY E-MAIL: extravaillants@gmail.com

Capture d’écran 2024-03-25 à 13.04.12.png

After the FALC sheet "I UNDERSTAND MY DIFFERENCE"
( written in Easy to Read and Understand) 


 CARDS VERSION enters the TEST phaseuntil the end of June 2024
 

!! Elements are in French BUT we are working on an english version.For more explanations and  to take part of the test, please contactus: extravaillants@gmail.com

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

!! To note :

  • Integration with the BNDMR (BaMaRa tool) with the update in fall 2023

  • At the end of May 2023, the Orphanet file is under construction

 📍 NEWS  

Magazine
Extra-Vaillants MYT1L actuality

Click on the image to play the video
To be found on the YouTube channel in video format
Capture d’écran 2023-11-09 à 13.52.56.png

Practical information
while waiting for the EMERGENCY CARD and SHEET

Click on the image to read it.
Activate the resource links using the underlined words in the document
Capture d’écran 2024-01-13 à 18.48.28.png

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 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 MYT1L  and on 

kisspng-logo-youtube-premium-2018-san-bruno-california-sh-yt-5b2c254a0a77e0.99206875152961
  • CONFERENCES in French and English of the 1st day dedicated to the MYT1L gene

click on the logo for the YouTube channel

  • Newsfact sheets on pathology 

SHEET DETAILED and SHEET FLASH!

Capture d’écran 2022-12-07 à 09.36.10.png
Capture d’écran 2023-06-05 à 21.17.49.png
Capture d’écran 2024-01-05 à 15.45.45.png

📍👉🏻 In Champions corner

  • Find out about events common to all Vaillants

  • Read stories from Vaillants and their families

  • "I UNDERSTAND MY DIFFERENCE"

  • "I understand my transition from paediatric care to adult care: it's the transition to hospital”.

Capture d’écran 2023-01-30 à 19.36.45.png

📍👉🏻 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)

Capture d’écran 2023-10-14 à 11.44.55.png
Médecin portant des gants chirurgicaux

📍👉🏻 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.

Capture d’écran 2023-09-04 à 13.09.41.png
  • Partie 4  HANDIGYNÉCO & INTIM AGIR​Intimate 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

Capture d’écran 2023-06-21 à 12.50.40.png
Capture d’écran 2023-06-19 à 11.48.00.png

 📍 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  

Capture d’écran 2023-04-09 à 22.41.43.png

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.

Capture d’écran 2022-05-02 à 10.57_edited.jpg
Capture d’écran 2023-11-14 à 11.15.24.png
bottom of page