Genetic models of focal epilepsies
| Autor: | Stéphanie Baulac, Morgane Boillot |
|---|---|
| Přispěvatelé: | Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Administateur, HAL Sorbonne Université, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS) |
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
0301 basic medicine
DEPDC5 KCNT1 Autosomal dominant nocturnal frontal lobe epilepsy Nerve Tissue Proteins [SDV.GEN] Life Sciences [q-bio]/Genetics Biology Ion Channels Animals Genetically Modified 03 medical and health sciences Epilepsy 0302 clinical medicine CHRNB2 Neurotransmitter receptor Genetic model medicine Animals Genetic Predisposition to Disease Cellular and animal models PI3K/AKT/mTOR pathway [SDV.GEN]Life Sciences [q-bio]/Genetics General Neuroscience medicine.disease Genetic focal epilepsies 3. Good health Receptors Neurotransmitter Nicotinic acetylcholine receptor Disease Models Animal 030104 developmental biology CHRNA4 Epilepsy syndromes Mutation LGI1 Epilepsies Partial Genetic Engineering Neuroscience 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neuroscience Methods Journal of Neuroscience Methods, 2015, 260, pp.132-143. ⟨10.1016/j.jneumeth.2015.06.003⟩ Journal of Neuroscience Methods, Elsevier, 2015, 260, pp.132-143. ⟨10.1016/j.jneumeth.2015.06.003⟩ |
| ISSN: | 0165-0270 |
| DOI: | 10.1016/j.jneumeth.2015.06.003⟩ |
| Popis: | International audience; Focal epilepsies were for a long time thought to be acquired disorders secondary to cerebral lesions. However, the important role of genetic factors in focal epilepsies is now well established. Several focal epilepsy syndromes are now proven to be monogenic disorders. While earlier genetic studies suggested a strong contribution of ion channel and neurotransmitter receptor genes, later work has revealed alternative pathways, among which the mammalian target of rapamycin (mTOR) signal transduction pathway with DEPDC5. In this article, we provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal dominant epilepsy with auditory features (ADEAF). We also emphasize, through a review of the current literature, the contribution of in vitro and in vivo models developed to unveil the pathogenic mechanisms underlying these two epileptic syndromes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect