📍 NEWS
ORPHA CODE
TND linked to the MYT1L gene
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Orphanet code to be filled in or consulted if you are a physician, health care or social welfare professional...
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Orphanet code to be indicated if you are a caregiver or patient
!! To note :
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Integration with the BNDMR (BaMaRa tool) with the update in fall 2023
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At the end of May 2023, the Orphanet file is under construction
ORPHA CODE
TND linked to the MYT1L gene
News magazine of the Extra-Vaillants MYT1L
Quiz for caregivers and patients with MYT1L syndrome (in french)
Until May 30, 2023
Click on the image even if the image is in french
THE FILE IS IN ENGLISH
Click on the image to answer.
📍 NOTES
📍👉🏻 In PUBLICATIONS : NEW RELEASES
MAY
" 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review", Malek Bouassida et al - European Journal of Human Genetics, published on line : may 15, 2023
APRIL
MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brain", Jiayang Chen et al - Genome Research, published on line : April 26, 2023
FEBRUARY
"MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention", Moritz Mall et al - Molecular Psychiatry, Nature, published on line : february 14.
📍👉🏻 In events/actions
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Complementary project to describe eating disorders linked to the MYT1L gene
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Collaboration with the teams of Dr Mall Moritz (Germany)
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PRH76: Departmental Thematic Day on EARLY CHILDHOOD AND DISABILITY
(10 sessions focusing on identification, diagnosis and aftercare, tools, practitioners and the role of families)
Welcome
at Les Extra-Vaillants - MYT1L
Les Extra-Vaillants - MYT1L is a non-profit association law 1901 on neurodevelopmental syndrome MYT1L (abnormality in the gene sequence, or, loss of part or all of the gene).
This association was created by parents boosted by a team of doctors in clinical genetics and molecular genetics motivated by the subject.
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Our mission : support, inform, raise awareness, take part in the advancement of clinical and fundamental research on anomalies of the MYT1L gene.
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Our objectives : to better understand, support, compensate, open the field of possibilities for each of the different profiles of patients affected by this rare genetic disease, and at each stage of their life.
The association Les Extra-Vaillants MYT1L is a member of the Alliance des Maladies Rares.
It is supported and accompanied by the AnDDi-Rares health sector and the Reference Center for developmental anomalies and malformation syndromes of Rouen.
Find the presentations of the association Les Extra-Vaillants MYT1L
on our YouTube channel
📍 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
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Thankyou!!!! with all our hearts of parents and valiants!
Find the testimonies of the families on this day in "champion's corner"
THANK YOU! So many thanks!
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.