Mouse models of Kcnq2 dysfunction
| Autor: | Lucile Brun, Jean‐Charles Viemari, Laurent Villard |
|---|---|
| Přispěvatelé: | Viemari, Jean-Charles, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Neurosciences de la Timone (INT), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Timone [CHU - APHM] (TIMONE) |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Brain Diseases
[SDV]Life Sciences [q-bio] M current Nerve Tissue Proteins [SDV] Life Sciences [q-bio] Mice Disease Models Animal Neurology Seizures Mutation self-limited familial neonatal-infantile epilepsy Animals KCNQ2 Potassium Channel mouse models Neurology (clinical) developmental and epileptic encephalopathy |
| Zdroj: | Epilepsia Epilepsia, 2022, 63 (11), pp.2813-2826. ⟨10.1111/epi.17405⟩ |
| ISSN: | 0013-9580 |
| Popis: | International audience; Variants in the Kv7.2 channel subunit encoded by the KCNQ2 gene cause epileptic disorders ranging from a benign form with self-limited epileptic seizures and normal development to severe forms with intractable epileptic seizures and encephalopathy. The biological mechanisms involved in these neurological diseases are still unclear. The disease remains intractable in patients affected by the severe form. Over the past 20 years, KCNQ2 models have been developed to elucidate pathological mechanisms and to identify new therapeutic targets. The diversity of Kcnq2 mouse models has proven invaluable to access neuronal networks and evaluate the associated cognitive deficits. This review summarizes the available models and their contribution to our current understanding of KCNQ2 epileptic disorders. |
| Databáze: | OpenAIRE |
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