The GABA link in Genetic Generalized Epilepsy | Beyond the Ion Channel epilepsygenetics.net/2018/10/02/the…

KETO2018 - when everyone’s phone buzzes in Korean with Typhoon alert ⚠️ in the middle of my talk. Scary evening ahead 💨🌧🌬 @ ICC JEJU 제주국제컨벤션센터 instagram.com/p/Boi1IUXjK7ya…

Is it time for an International Neurological Ketogenic Society? Exciting times with Global Keto meetings attracting 600+ people instagram.com/p/Boq-hDBjG_Nb…

We are delighted to announce Prof Prof Ingrid Scheffer as our President Elect - she will take over from current President, Prof Ian Frazer, when he steps down in October 2019. aahms.org/announcing-our…

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.

Proud to be part of this important discovery - congratulations Katie Helbig Dr. Heather Mefford @hcmefford.bsky.social on identifying this new disease CACNA1E encephalopathy

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. ow.ly/kmuw30mNOjG

Repeat Expansion Disease Detection From Short Reads Shows Potential for Clinical Use genomeweb.com/sequencing/rep…

Our paper on poison exon variants and SCN1A-associated epilepsy is out today in AJHG, exciting collaboration w Dr. Heather Mefford @hcmefford.bsky.social, Prof Ingrid Scheffer & Greg Cooper HudsonAlpha #epilepsy #genetics Northwestern Feinberg School of Medicine cell.com/ajhg/fulltext/…

An epilepsy genetic counselor's highlights from #AES2018 epilepsygenetics.net/2018/12/10/aes…

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

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 smh.com.au/national/victo…

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

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. geneticepilepsyteam.com.au/livestream/ #GETA2019 #SCN2A #KCNQ2 #SYNGAP1 #Dravet #geneticepilepsy

Hot off the press! #GeneticEpilepsy #Epilepsy

Congratulations to our Director of Paediatrics/Paediatric Neurology, Professor Ingrid Scheffer AO, who was recently appointed as the first female President of the Australian Academy of Health and Medical Sciences Our staff continue to make an enormous contribution to healthcare and research across Australia.

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

New paper alert! Extending the geographical range of the FAME1 repeat expansion! #epilepsygenetics nature.com/articles/s4143…

Our latest work on repeat expansions in epilepsy just published in European Journal of Human Genetics. Familial adult myoclonic epilepsy in Sri Lankan and Indian families is caused by an ancient, ~17,000 year old repeat expansion. nature.com/articles/s4143…

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