Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Seizures and epilepsy: an overview for neuroscientists

CE Stafstrom, L Carmant - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Epilepsy is one of the most common and disabling neurologic conditions, yet we have an
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …

Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies

J Oyrer, S Maljevic, IE Scheffer, SF Berkovic… - Pharmacological …, 2018 - Elsevier
Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

Developmental and epileptic encephalopathies: what we do and do not know

N Specchio, P Curatolo - Brain, 2021 - academic.oup.com
Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

Sodium channelopathies in neurodevelopmental disorders

MH Meisler, SF Hill, W Yu - Nature Reviews Neuroscience, 2021 - nature.com
The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …

Advances in genetics of migraine

HG Sutherland, CL Albury, LR Griffiths - The journal of headache and pain, 2019 - Springer
Background Migraine is a complex neurovascular disorder with a strong genetic component.
There are rare monogenic forms of migraine, as well as more common polygenic forms; …

Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction

EM Goldberg, DA Coulter - Nature Reviews Neuroscience, 2013 - nature.com
Epilepsy is a prevalent neurological disorder associated with significant morbidity and
mortality, but the only available drug therapies target its symptoms rather than the underlying …

The develo** utility of zebrafish models of neurological and neuropsychiatric disorders: A critical review

BD Fontana, NJ Mezzomo, AV Kalueff… - Experimental …, 2018 - Elsevier
Zebrafish (Danio rerio) have become a powerful tool in neuroscience research due to their
genetic tractability, molecular/physiological conservation, small body size, ease of …

Epilepsy-related voltage-gated sodium channelopathies: a review

LFS Menezes, EF Sabiá Júnior, DV Tibery… - Frontiers in …, 2020 - frontiersin.org
Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …

Migraine pathophysiology: lessons from mouse models and human genetics

MD Ferrari, RR Klever, GM Terwindt, C Ayata… - The Lancet …, 2015 - thelancet.com
Migraine is a common, disabling, and undertreated episodic brain disorder that is more
common in women than in men. Unbiased genome-wide association studies have identified …