Epilepsy Research

#Epilepsy research team @unimelb led by Prof. @ingridscheffer and Prof. Sam Berkovic. Leaders in #GeneticEpilepsy

[Epilepsy Research @EpilepsyRC]

Today we are attending the first virtual scientific meeting of @EpilepsySocAus. From molecular to clinical, there is so much exciting epilepsy research happening in Australia!

[The Epilepsy Society of Australia @EpilepsySocAus]

Our very first Virtual Annual Scientific Meeting is underway! 💻
Excited to hear from an incredible range of experts and early career researchers!

[Mark Bennett @mf_bennett]

Our latest work on repeat expansions in epilepsy just published in @ejhg_journal. Familial adult myoclonic epilepsy in Sri Lankan and Indian families is caused by an ancient, ~17,000 year old repeat expansion. https://t.co/O93tuCS5Rw

[Epilepsy Research @EpilepsyRC]

New paper alert! Extending the geographical range of the FAME1 repeat expansion! #epilepsygenetics https://t.co/v85YpoATMQ

[Epilepsy Research @EpilepsyRC]

@GeneticsMatt You will be missed Matt! Best of luck for your your PhD, we know you'll do amazing things!

[Epilepsy Research @EpilepsyRC]

New research: #BRAT1 is an important recessive cause of EIMFS #geneticepilepsy

[Amy Schneider @AmySchneider02]

Think BRAT1 for patients with EIMFS, seizure onset in the first few days of life and rigidity #dmcn @ingridscheffer @hcmefford @candacemyers @annerochtus @EpilepsyRC
https://t.co/LGcKcqEvYt

[Austin Health @Austin_Health]

Congratulations to our Director of Paediatrics/Paediatric Neurology, Professor Ingrid Scheffer AO, who was recently appointed as the first female President of the @aahms_health

Our staff continue to make an enormous contribution to healthcare and research across Australia.

[Epilepsy Research @EpilepsyRC]

Hot off the press! #GeneticEpilepsy #Epilepsy

[Nature Communications @NatureComms]

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 | https://t.co/7j6rC2iYtc

@GeczSquadGoals @RobsInstitute
@UniofAdelaide
@ingridscheffer
@ChristelDepienn @MelanieBahlo

[GETA @geneticepilepsy]

If you can’t join us in person, follow the livestream for our Genetic Epilepsy conference on May 4th from 09:00 UTC+10. We’re looking forward to hearing the latest research on genetic epilepsy. https://t.co/QnDZmq63yM #GETA2019 #SCN2A #KCNQ2 #SYNGAP1 #Dravet #geneticepilepsy

[Epilepsy Foundation of Australia @epilepsy_fdn]

CHRISTMAS SPIRIT

‘‘It’s beautiful. It’s a lovely gesture. It’s nice for River to have a break from being in the room and to feel special.’’ - Kathy Bright The Sydney Morning Herald https://t.co/ypud9o6KOz

[Prof Ingrid Scheffer @ingridscheffer]

Thanks to the hard work of Dr Danique Vlaskamp - a talented budding paediatric neurologist. Hoping it assists in seizure recognition & treatment for children and adults with #syngap1

[Epilepsy Research @EpilepsyRC]

Truly international effort demonstrating the power of collaboration in #epilepsy genetic research; great to be a part of it #GeneticEpilepsy

[Nature Communications @NatureComms]

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies – new article from @markmccormack86 @EpilepsyRC at @NatureComms https://t.co/Uv7Vnotcou

[Katie Helbig @katiehelbig]

An epilepsy genetic counselor's highlights from #AES2018
https://t.co/n5AwHLlO55

[Melanie Bahlo @MelanieBahlo]

Repeat Expansion Disease Detection From Short Reads Shows Potential for Clinical Use https://t.co/Cn9h6cBzHy

[International League Against Epilepsy @IlaeWeb]

Classification of #Seizure Types: Latest in our #infographic series by ILAE's Young #Epilepsy Section (@yesILAE ). Follow the link for more information including the full guideline, instruction manual and online training module. https://t.co/2D1V6iX7gf

[Gemma Carvill, PhD @CarvillLab]

Our paper on poison exon variants and SCN1A-associated epilepsy is out today in @AJHGNews, exciting collaboration w @hcmefford, @ingridscheffer & Greg Cooper @hudsonalpha #epilepsy #genetics @NUFeinbergMed https://t.co/5uLaLX98CL

[Melanie Bahlo @MelanieBahlo]

First CNV results from Epi25 from Dennis' Lal's group. PennCNV/SNP chips 11K cases. New hits/first hits - e.g. Unclassified epilepsies: gains 9p11.2 and 1q21.1. New places to look for pathogenic causes.

[Prof Ingrid Scheffer @ingridscheffer]

Proud to be part of this important discovery - congratulations @katiehelbig @hcmefford on identifying this new disease CACNA1E encephalopathy

[Australian Academy of Health and Medical Sciences @AAHMS_health]

We are delighted to announce Prof @ingridscheffer as our President Elect - she will take over from current President, Prof Ian Frazer, when he steps down in October 2019.
https://t.co/KbNRToaGMr

[Prof Ingrid Scheffer @ingridscheffer]

Is it time for an International Neurological Ketogenic Society? Exciting times with Global Keto meetings attracting 600+ people https://t.co/7GoNfzDKAv

[Prof Ingrid Scheffer @ingridscheffer]

KETO2018 - when everyone’s phone buzzes in Korean with Typhoon alert ⚠️ in the middle of my talk. Scary evening ahead 💨🌧🌬 @ ICC JEJU 제주국제컨벤션센터 https://t.co/WK6TSaqTsM