Genetics of migraine: where are we now?
L Grangeon, KS Lange, M Waliszewska-Prosół… - The Journal of …, 2023 - Springer
Migraine is a complex brain disorder explained by the interaction of genetic and
environmental factors. In monogenic migraines, including familial hemiplegic migraine and …
environmental factors. In monogenic migraines, including familial hemiplegic migraine and …
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; …
Gene variant effects across sodium channelopathies predict function and guide precision therapy
A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
Sodium channelopathies of skeletal muscle and brain
M Mantegazza, S Cestèle… - Physiological …, 2021 - journals.physiology.org
Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …
electrically excitable cells. Mutations in them cause a wide range of diseases. These …
SCN1A/NaV1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models
M Mantegazza, V Broccoli - Epilepsia, 2019 - Wiley Online Library
Summary Pathogenic SCN 1A/NaV1. 1 mutations cause well‐defined epilepsies, including
genetic epilepsy with febrile seizures plus (GEFS+) and the severe epileptic encephalopathy …
genetic epilepsy with febrile seizures plus (GEFS+) and the severe epileptic encephalopathy …
Headache in people with epilepsy
Epidemiological estimates indicate that individuals with epilepsy are more likely to
experience headaches, including migraine, than individuals without epilepsy. Headaches …
experience headaches, including migraine, than individuals without epilepsy. Headaches …
Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication
S Matricardi, S Cestèle, M Trivisano, B Kassabian… - …, 2023 - Wiley Online Library
Objective This study was undertaken to refine the spectrum of SCN1A epileptic disorders
other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) …
other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) …
Voltage-gated sodium channel dysfunctions in neurological disorders
The pore-forming subunits (α subunits) of voltage-gated sodium channels (VGSC) are
encoded in humans by a family of nine highly conserved genes. Among them, SCN1A …
encoded in humans by a family of nine highly conserved genes. Among them, SCN1A …
TRPM2 oxidation activates two distinct potassium channels in melanoma cells through intracellular calcium increase
Tumor microenvironments are often characterized by an increase in oxidative stress levels.
We studied the response to oxidative stimulation in human primary (IGR39) or metastatic …
We studied the response to oxidative stimulation in human primary (IGR39) or metastatic …
Migraine: advances in the Pathogenesis and treatment
H Pleș, IA Florian, TL Timis… - Neurology …, 2023 - mdpi.com
This article presents a comprehensive review on migraine, a prevalent neurological disorder
characterized by chronic headaches, by focusing on their pathogenesis and treatment …
characterized by chronic headaches, by focusing on their pathogenesis and treatment …