Hippocampal sclerosis in epilepsy: a neuropathology review

M Thom - Neuropathology and applied neurobiology, 2014 - Wiley Online Library
Hippocampal sclerosis (HS) is a common pathology encountered in mesial temporal lobe
epilepsy (MTLE) as well as other epilepsy syndromes and in both surgical and post‐mortem …

The hidden genetics of epilepsy—a clinically important new paradigm

RH Thomas, SF Berkovic - Nature Reviews Neurology, 2014 - nature.com
Understanding the aetiology of epilepsy is essential both for clinical management of patients
and for conducting neurobiological research that will direct future therapies. The aetiology of …

De novo mutations in epileptic encephalopathies

Nature, 2013 - nature.com
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …

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 …

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

MR Nelson, D Wegmann, MG Ehm, D Kessner… - Science, 2012 - science.org
Rare genetic variants contribute to complex disease risk; however, the abundance of rare
variants in human populations remains unknown. We explored this spectrum of variation by …

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 …

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 …

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 …

Multivariate analysis reveals genetic associations of the resting default mode network in psychotic bipolar disorder and schizophrenia

SA Meda, G Ruaño, A Windemuth… - Proceedings of the …, 2014 - National Acad Sciences
The brain's default mode network (DMN) is highly heritable and is compromised in a variety
of psychiatric disorders. However, genetic control over the DMN in schizophrenia (SZ) and …

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

D Kasperavičiūtė, CB Catarino, M Matarin, C Leu… - Brain, 2013 - academic.oup.com
Epilepsy comprises several syndromes, amongst the most common being mesial temporal
lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with …