Authors: Nhan Thi Ho, MD, PhD, Barbara Kroner, MPH, PhD, Zachary Grinspan, MPH, MD, Brandy Fureman, PhD, Kathleen Farrell, MB, BCh, BAO, Jingzhou Zhang, MPH, MD, Janice Buelow, RN, PhD, Dale C. Hesdorffer, MPH, PhD Correspondence information about the author MPH, PhD Dale C. Hesdorffer Email the author MPH, PhD Dale C. Hesdorffer and the Rare Epilepsy Network Steering Committee.
Summary: Persons with rare epilepsies and caregivers of those affected were recruited through the Epilepsy Foundation and more than 30 rare epilepsy advocacy organizations affiliated with the Rare Epilepsy Network (REN). A web-based survey was conducted using a questionnaire consisting of core sections to collect data from affected persons on various aspects, including comorbidities. Comorbidity information was grouped into 15 classes, 12 of which had a stem question followed by detailed branch questions and 3 that were created from a combination of related questions.
Authors of original paper:
Jarek Wegiel , W. Ted Brown, Giuseppe La Fauci, Tatyana Adayev, Richard Kascsak, Regina Kascsak, Michael Flory, Wojciech Kaczmarski, Izabela Kuchna, Krzysztof Nowicki, Veronica Martinez-Cerdeno , Thomas Wisniewski, and Jerzy Wegiel
Summary: Autism is diagnosed in about 80% of people with Dup15q (maternal duplication of the 15q11-q13 region), making it a key gene in the understanding of this disorder. For most people with autism, a mix of different genes and environmental factors led to a diagnosis. However, in people with Dup15q, a key region on chromosome 15 is largely responsible. Researchers are using this to both better understand autism, and develop targeted therapies which may help those even without a mutation in chromosome 15.
Animal models of neurodevelopmental disorders have provided invaluable insights into the molecular-, cellular-, and circuit-level defects associated with a plethora of genetic disruptions. In many cases, these deficits have been linked to changes in disease-relevant behaviors, but very few of these findings have been translated to treatments for human disease.
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality in young adults. The exact mechanisms are unknown but death often follows a generalized tonic–clonic seizure. Proposed mechanisms include seizure-related respiratory, cardiac, autonomic, and arousal dysfunction. Genetic drivers underlying SUDEP risk are largely unknown.
By: Nora Urraca, Kevin Hope, A. Kaitlyn Victor, T. Grant Belgard, Rawaha Memon, Sarita Goorha, Colleen Valdez, Quynh T. Tran, Silvia Sanchez, Juanma Ramirez, Martin Donaldson, Dave Bridges and Lawrence T. Reiter
The present invention provides methods and compositions for inducing expression of Ube3a in a cell by contacting the cell with a topoisomerase inhibitor. Particular embodiments include a method of treating a genomic imprinting disorder, such as Angelman syndrome, in a subject by administering to the subject an effective amount of a topoisomerase inhibitor.
A community response: Advocates embrace new AAN/AES SUDEP guideline
Authors;Krishnan, V., Stoppel, DC., Nong, Y., Johnson, MA., Nadler, MJ., Ozkaynak, E., Teng, BL., Nagakura, I., Mohammad, F., Silva, MA., Peterson, S., Cruz, TJ., Kasper, EM., Arnaout, R., Anderson, MP
Authors: Lauren Pulling (Neurology Central), Jill Silverman and Nathalie Buscher (both University of California, Davis, CA, USA)