The neurobiology of antiepileptic drugs

MA Rogawski, W Löscher - Nature reviews neuroscience, 2004 - nature.com
Antiepileptic drugs (AEDs) provide satisfactory control of seizures for most patients with
epilepsy. The drugs have the remarkable ability to protect against seizures while permitting …

Ion channel diseases

CA Hübner, TJ Jentsch - Human molecular genetics, 2002 - academic.oup.com
Ion channels serve many functions apart from electrical signal transduction: chemical
signalling (Ca2+ as a second messenger), transepithelial transport, regulation of …

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms

L Damaj, A Lupien-Meilleur, A Lortie, É Riou… - European Journal of …, 2015 - nature.com
CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2),
with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia …

Bioinformatically detectable group of novel regulatory genes and uses thereof

I Bentwich - US Patent 7,250,496, 2007 - Google Patents
The present invention relates to a first group of novel genes, here identified as “genomic
address messenger” or “GAM” genes, and a second group of novel operon-like genes, here …

Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders

E Rossignol - Neural plasticity, 2011 - Wiley Online Library
A dysfunction of cortical and limbic GABAergic circuits has been postulated to contribute to
multiple neurodevelopmental disorders in humans, including schizophrenia, autism, and …

Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia

P Imbrici, SL Jaffe, LH Eunson, NP Davies, C Herd… - Brain, 2004 - academic.oup.com
The molecular basis of idiopathic generalized epilepsy remains poorly understood. Absence
epilepsy with 3 Hz spike–wave EEG is one of the most common human epilepsies, and is …

Common pathophysiologic mechanisms in migraine and epilepsy

MA Rogawski - Archives of neurology, 2008 - jamanetwork.com
Migraine and epilepsy are comorbid episodic disorders that have common pathophysiologic
mechanisms. Migraine attacks, like epileptic seizures, may be triggered by excessive …

Channelopathies as a genetic cause of epilepsy

JC Mulley, IE Scheffer, S Petrou… - Current opinion in …, 2003 - journals.lww.com
All but one of the idiopathic epilepsies with a known molecular basis are channelopathies.
Where the ion channel defects have been identified, however, they generally account for a …

Genetic and epigenetic mechanisms of epilepsy: a review

T Chen, M Giri, Z Xia, YN Subedi… - … disease and treatment, 2017 - Taylor & Francis
Epilepsy is a common episodic neurological disorder or condition characterized by recurrent
epileptic seizures, and genetics seems to play a key role in its etiology. Early linkage studies …

The neuronal channelopathies

DM Kullmann - Brain, 2002 - academic.oup.com
This review addresses the molecular and cellular mechanisms of diseases caused by
inherited mutations of ion channels in neurones. Among important recent advances is the …