developmental epileptic encephalopathy Archives

Categories

SCN2A Simplified

Impact of genetic epilepsy on parents

Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.

Sign up to the newsletter for updates.

SCN2A Asia PacificFollow

Working towards a cure for SCN2A, Raising Awareness and SCN2A Organisation for SCN2A families in Australia & across South East Asia.

Retweet on Twitter SCN2A Asia Pacific Retweeted

SynGAP Research Fund (SRF)@cureSYNGAP1·

16 Mar

Kudos to @IDreamofGenes for this tremendous work covering 6 genes.

SYNGAP1
STXBP1
KCNQ2
FOXG1
SCN2A
SCN8A

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

https://www.medrxiv.org/content/10.1101/2023.03.02.23286645v1

Reply on Twitter 1636177159059574784 Retweet on Twitter 163617715905957478417 Like on Twitter 163617715905957478445 Twitter 1636177159059574784

Retweet on Twitter SCN2A Asia Pacific Retweeted

SWAN Australia @swanaus·

14 Mar

Over 150 SWAN children experience neurological symptoms as a result of their genetic condition. Some conditions include: Rubinstein-Taybi Syndrome, FOXP1 Syndrome, SCN2A, CACNA1A and a range of rare deletions and duplications.

#brainawarenessweek #neurological #SWANAus

Reply on Twitter 1635777907678146563 Retweet on Twitter 16357779076781465634 Like on Twitter 163577790767814656310 Twitter 1635777907678146563

SCN2A Asia Pacific @SCN2AAustralia·

11 Mar

We are proud to partner with @geneticepilepsy to host this family day. Connection is so important in rare disease.

We can’t wait to meet you all!

#scn2a #family #raredisease @MelbourneZoo

Reply on Twitter 1634648955828195329 Retweet on Twitter 1634648955828195329 Like on Twitter 16346489558281953291 Twitter 1634648955828195329