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 …
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 …
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 …
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 …
characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving …
Visually sensitive seizures: An updated review by the Epilepsy Foundation
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 …
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 …
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 …
from this progress are already materializing through improved clinical diagnosis and …
Recent advances in epilepsy genetics
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 …
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 …
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
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 …
Despite a high concordance rate of 80% in monozygotic twins, the genetic background is …