Genetic landscape of common epilepsies: advancing towards precision in treatment

S Thakran, D Guin, P Singh, P Singh, S Kukal… - International journal of …, 2020 - mdpi.com
Epilepsy, a neurological disease characterized by recurrent seizures, is highly
heterogeneous in nature. Based on the prevalence, epilepsy is classified into two types …

The role of calcium channels in epilepsy

S Rajakulendran, MG Hanna - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
A central theme in the quest to unravel the genetic basis of epilepsy has been the effort to
elucidate the roles played by inherited defects in ion channels. The ubiquitous expression of …

Genetic testing in the epilepsies—report of the ILAE Genetics Commission

R Ottman, S Hirose, S Jain, H Lerche, I Lopes‐Cendes… - 2010 - Wiley Online Library
In this report, the International League Against Epilepsy (ILAE) Genetics Commission
discusses essential issues to be considered with regard to clinical genetic testing in the …

Double bromodomain‐containing gene Brd2 is essential for embryonic development in mouse

E Shang, X Wang, D Wen, DA Greenberg… - Developmental …, 2009 - Wiley Online Library
Double bromodomain‐containing gene Brd2 is essential for embryonic development in mouse -
Shang - 2009 - Developmental Dynamics - Wiley Online Library Skip to Article Content Skip to …

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

GL Cavalleri, ME Weale, KV Shianna, R Singh… - The Lancet …, 2007 - thelancet.com
Summary Background The Epilepsy Genetics (EPIGEN) Consortium was established to
undertake genetic mapping analyses with augmented statistical power to detect variants that …

Genetic evaluation and counseling for epilepsy

DK Pal, AW Pong, WK Chung - Nature Reviews Neurology, 2010 - nature.com
The contribution of genetics to both rare and common epilepsies is rapidly being elucidated,
and neurologists are routinely considering genetic testing in the work-up of several epilepsy …

GABAergic neuron deficit as an idiopathic generalized epilepsy mechanism: the role of BRD2 haploinsufficiency in juvenile myoclonic epilepsy

L Velíšek, E Shang, J Velíšková, T Chachua… - PLoS …, 2011 - journals.plos.org
Idiopathic generalized epilepsy (IGE) syndromes represent about 30% of all epilepsies.
They have strong, but elusive, genetic components and sex-specific seizure expression …

BET bromodomains as novel epigenetic targets for brain health and disease

MB Singh, GC Sartor - Neuropharmacology, 2020 - Elsevier
Epigenetic pharmacotherapy for CNS-related diseases is a burgeoning area of research. In
particular, members of the bromodomain and extra-terminal domain (BET) family of proteins …

Adenosine A1 receptor gene variants associated with post-traumatic seizures after severe TBI

AK Wagner, MA Miller, J Scanlon, D Ren… - Epilepsy research, 2010 - Elsevier
Post-traumatic seizures (PTS) are a significant complication from traumatic brain injury (TBI).
Adenosine, a major neuroprotective and neuroinhibitory molecule, is important in …

[HTML][HTML] Epigenetic principles underlying epileptogenesis and epilepsy syndromes

K Conboy, DC Henshall, GP Brennan - Neurobiology of disease, 2021 - Elsevier
Epilepsy is a network disorder driven by fundamental changes in the function of the cells
which compose these networks. Driving this aberrant cellular function are large scale …