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Updated: Sep 9, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

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エピレプシーの遺伝子検査とカウンセリングのガイドラインの実施における障壁

Sophie Melly1, Amanda L Bergner1,2,3, Tristan Sands3

  • 1Program in Genetic Counseling, Vagelos College of Physicians and Surgeons, Columbia University, New York, New York, USA.

Epilepsia open
|August 29, 2025
PubMed
まとめ

神経科医は 原因不明のの遺伝子検査のガイドラインを 完全に実施していません 障壁には,保険,調整,遺伝子カウンセラーへのアクセス制限,特に成人の患者です.

キーワード:
大人の神経科医最高の実践ゲノム学原因不明の

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Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
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Psychosurgery, the surgical alteration or permanent removal of brain tissue to alleviate severe psychological conditions, stands as one of the most radical and controversial treatments in the history of mental health care. Its development and application have evolved significantly, marked by dramatic shifts in scientific understanding and ethical perspectives.
Historical Development of Psychosurgery
In the 1930s, Portuguese neurologist Antonio Egas Moniz introduced a surgical procedure designed...
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The barriers to effective communication also include cultural barriers, semantic barriers, gender barriers, and time constraints.
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Electroconvulsive therapy (ECT), or shock therapy, remains a critical biomedical intervention for severe, treatment-resistant depression. While its origins can be traced back to Hippocrates' observations that malaria-induced convulsions alleviated mental illness, modern ECT has evolved significantly from its earlier, more primitive applications. First introduced in 1938 by Ugo Cerletti and his colleagues, ECT involves inducing controlled seizures using electrical currents. In its early...
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Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
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