PubMed: Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation. dlvr.it/R3D7hy

Be a PMSF ambassador for Giving 22uesday! Share posts and encourage your family and friends to give at pmsf.org/donate. If you would like a custom Giving 22uesday graphic, email a photo to [email protected] #PMSF and #Giving22uesday.

Shocking ,ignorance, #Autism #SaturdayThoughts

Tiny, deformed tortoise takes off running when his dad gives him wheels 💚

“Many people with a #LearningDisability will spend this Christmas alone. With the right support, that can change.” Join Mencap ambassador and Gavin & Stacey star Mat Horne and support us this Christmas to help make that change a reality: bit.ly/398iUO3 #GavinandStacey

Most common epilepsy causing genes: 1⃣ #SCN1A 2⃣ #KCNQ2 3⃣ #CDKL5 4⃣ #SCN2A 5⃣ #STXBP1 6⃣ #PCDH19 Together, these 6 genes account for 50% of the diagnosis using gene panels. 🚨5 of those genes have active clinical trials! we NEED more genetic testing! ejpn-journal.com/article/S1090-…

csh Dravet Syndrome Foundation The Notorious EEG (M. Scott Perry MD) KCNQ2 Cure Alliance FamilieSCN2A PCDH19Alliance stxbp1 Asc. Sindrome STXBP1 ASOCIACIÓN CDKL5 CDKL5USA - IFCR EpiCARE if you already have a diagnosis: get in contact with the patient groups from that syndrome so that you can learn about trials and options. If you don't yet have a diagnosis and happen to have a doctor who thinks that "it won't make any difference", then get a second opinion.

We are pleased to announce the launch of Congenica Neuro™, a new Congenica application that facilitates faster and more accurate characterization and diagnosis of epilepsy and neurodevelopmental disorders. Find out More: ow.ly/WLIJ50xUbgf

This is Martha! She is 14 tomorrow. She’s been amazing throughout lockdown despite having Williams Syndrome but she’s sad that she won’t see her friends on her birthday. If you get a sec, can you send her some Twitter birthday love! Would make her day. Thanks so much! X

Two nurses stage a counter protest 💙

We're looking for people affected by any of these #rarediseases that would like to connect with others living with the same condition. Interested? Send us an email at [email protected] or visit RareConnect.org Share this image and help us #BreakTheIsolation!

Five-year-old double amputee Tony Hudgell has raised more than £320,000 for the NHS. Tony is walking every day in June on his new prosthetic legs to reach his 10km challenge. Latest from the UK here: trib.al/hLdji9v

Inspired by others I am joining in & reading a research paper a day. Day 1) Figura, M. G., et al. (2014). Seizures and EEG pattern in the 22q13. 3 deletion syndrome: clinical report of six Italian cases. Seizure, 23(9), 774-779.

Help give 600,000 people a voice. I value the lives of people with #epilepsy as I do those with Parkinson’s. But the Govt provides 10 x more £££ for research into Parkinson’s than it does epilepsy... Help us change this! Please share! ⬇️ ERUK is now @EpilepsyInst youtu.be/OTioipymTd8

I'm taking part in the #WalkingHomeForChristmas challenge to raise funds for ex-military in need of #mentalhealth care. Walking With The Wounded 🎖️. Please support me: walkinghomeforchristmas.com/users/deano-pe…

A 2015 paper which is still extremely relevant today, highlighting the contextual difficulties for families and the therapeutic potential of genomic investigations into adult patients with epilepsy associated with learning difficulties. ncbi.nlm.nih.gov/pmc/articles/P…

I have recently learnt about a specific focal aware seizure aura which can be mistaken for panic attacks - Ictal fear. I believe they are often seen in temporal lobe epilepsy. Please reply if you have any personal or expert knowledge, keen to learn more. #Epilepsy #Neurology

Our Single Gene Disorder Guides at bit.ly/1Xnu0E5 include PURA, Floating-Harbor syndrome, SATB2 syndrome and a variety of others.