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 …

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; …

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 …

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 …

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 …

Headache in people with epilepsy

PR Bauer, EA Tolner, MR Keezer, MD Ferrari… - Nature Reviews …, 2021 - nature.com
Epidemiological estimates indicate that individuals with epilepsy are more likely to
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+) …

Voltage-gated sodium channel dysfunctions in neurological disorders

R Barbieri, M Nizzari, I Zanardi, M Pusch, P Gavazzo - Life, 2023 - mdpi.com
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 …

TRPM2 oxidation activates two distinct potassium channels in melanoma cells through intracellular calcium increase

L Ferrera, R Barbieri, C Picco, P Zuccolini… - International Journal of …, 2021 - mdpi.com
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 …

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 …