The synapsins: key actors of synapse function and plasticity

F Cesca, P Baldelli, F Valtorta, F Benfenati - Progress in neurobiology, 2010 - Elsevier
The synapsins are a family of neuronal phosphoproteins evolutionarily conserved in
invertebrate and vertebrate organisms. Their best-characterised function is to modulate …

A roadmap for precision medicine in the epilepsies

EpiPM Consortium - The Lancet Neurology, 2015 - Elsevier
Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Nature communications, 2018 - nature.com
The epilepsies affect around 65 million people worldwide and have a substantial missing
heritability component. We report a genome-wide mega-analysis involving 15,212 …

Identification of common variants associated with human hippocampal and intracranial volumes

JL Stein, SE Medland, AA Vasquez, DP Hibar… - Nature …, 2012 - nature.com
Identifying genetic variants influencing human brain structures may reveal new biological
mechanisms underlying cognition and neuropsychiatric illness. The volume of the …

[HTML][HTML] ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide

PM Thompson, OA Andreassen, A Arias-Vasquez… - Neuroimage, 2017 - Elsevier
In this review, we discuss recent work by the ENIGMA Consortium (http://enigma. ini. usc.
edu)–a global alliance of over 500 scientists spread across 200 institutions in 35 countries …

Inflammatory aspects of epileptogenesis: contribution of molecular inflammatory mechanisms

F Alyu, M Dikmen - Acta neuropsychiatrica, 2017 - cambridge.org
ObjectiveEpilepsy is a chronic neurological disease characterised with seizures. The
aetiology of the most generalised epilepsies cannot be explicitly determined and the …

BK channels in the central nervous system

C Contet, SP Goulding, DA Kuljis, AL Barth - International review of …, 2016 - Elsevier
Large conductance Ca 2+-and voltage-activated K+(BK) channels are widely distributed in
the postnatal central nervous system (CNS). BK channels play a pleiotropic role in …

Large mammalian animal models of heart disease

P Camacho, H Fan, Z Liu, JQ He - Journal of cardiovascular development …, 2016 - mdpi.com
Due to the biological complexity of the cardiovascular system, the animal model is an urgent
pre-clinical need to advance our knowledge of cardiovascular disease and to explore new …

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 …

Navigating the channels and beyond: unravelling the genetics of the epilepsies

I Helbig, IE Scheffer, JC Mulley, SF Berkovic - The Lancet Neurology, 2008 - thelancet.com
Genetic factors are now recognised to have an even more important role in epilepsies than
previously appreciated. Rare mendelian forms of epilepsy are now well recognised, and …