Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …
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 …
incomplete understanding of the detailed pathophysiology and, thus, treatment rationale for …
Ion channels in genetic epilepsy: from genes and mechanisms to disease-targeted therapies
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 …
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 …
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …
Sodium channelopathies in neurodevelopmental disorders
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 …
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; …
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 …
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 …
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 …
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 …
common in women than in men. Unbiased genome-wide association studies have identified …