Genetics and genomics of autism spectrum disorder: embracing complexity

S De Rubeis, JD Buxbaum - Human molecular genetics, 2015 - academic.oup.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by
impairments in social communication and social interaction and the presence of repetitive …

Advancing epilepsy genetics in the genomic era

CT Myers, HC Mefford - Genome medicine, 2015 - Springer
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Pathophysiological bases of comorbidity in migraine

C Altamura, I Corbelli, M De Tommaso… - Frontiers in Human …, 2021 - frontiersin.org
Despite that it is commonly accepted that migraine is a disorder of the nervous system with a
prominent genetic basis, it is comorbid with a plethora of medical conditions. Several studies …

Dravet syndrome and its mimics: Beyond SCN1A

D Steel, JD Symonds, SM Zuberi, A Brunklaus - Epilepsia, 2017 - Wiley Online Library
Objective Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …

Visually sensitive seizures: An updated review by the Epilepsy Foundation

RS Fisher, JN Acharya, FM Baumer, JA French… - …, 2022 - Wiley Online Library
Light flashes, patterns, or color changes can provoke seizures in up to 1 in 4000 persons.
Prevalence may be higher because of selection bias. The Epilepsy Foundation reviewed …

[HTML][HTML] Seizing the moment: Zebrafish epilepsy models

K Gawel, M Langlois, T Martins, W van der Ent… - Neuroscience & …, 2020 - Elsevier
Zebrafish are now widely accepted as a valuable animal model for a number of different
central nervous system (CNS) diseases. They are suitable both for elucidating the origin of …

Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment

JD Symonds, SM Zuberi… - Current opinion in …, 2017 - journals.lww.com
We are living in an unparalleled era of epilepsy gene discovery. Advances in clinical care
from this progress are already materializing through improved clinical diagnosis and …

Recent advances in epilepsy genetics

A Orsini, F Zara, P Striano - Neuroscience letters, 2018 - Elsevier
In last few years there has been rapid increase in the knowledge of epilepsy genetics.
Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy …

Function over form: modeling groups of inherited neurological conditions in zebrafish

RA Kozol, AJ Abrams, DM James, E Buglo… - Frontiers in molecular …, 2016 - frontiersin.org
Zebrafish are a unique cell to behavior model for studying the basic biology of human
inherited neurological conditions. Conserved vertebrate genetics and optical transparency …

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

P May, S Girard, M Harrer, DR Bobbili… - The Lancet …, 2018 - thelancet.com
Background Genetic generalised epilepsy is the most common type of inherited epilepsy.
Despite a high concordance rate of 80% in monozygotic twins, the genetic background is …