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epilepsy

Amyloid-β: A Potential Link between Epilepsy and Cognitive Decline

[Nature Reviews Neurology] The authors review evidence that amyloid-β (Aβ) forms part of a shared pathway between epilepsy and cognitive decline, particularly in the context of Alzheimer's disease.

Blood-Brain Barrier Dysfunction as a Potential Therapeutic Target for Neurodegenerative Disorders

[Archives of Pharmacal Research] We herein review a potential role of the major cellular components of the blood-brain barrier (BBB), with a focus on the contribution of BBB disruption, in neurodegenerative disease progression.

RHOA Signaling Defects Result in Impaired Axon Guidance in iPSC-Derived Neurons from Patients with Tuberous Sclerosis Complex

[Nature Communications] Scientists generated human induced pluripotent stem cell (hiPSC) lines from a patient with Tuberous Sclerosis Complex (TSC) and genetically engineer counterparts and isogenic controls. By differentiating hiPSCs, we show that control neurons respond to canonical guidance cues as predicted.

Altered Network and Rescue of Human Neurons Derived from Individuals with Early-Onset Genetic Epilepsy

[Molecular Psychiatry] Induced pluripotent stem cells derived from individuals deficient in CDKL5 protein were used to generate neural cells. Proteomic and phosphoproteomic approaches revealed disruption of several pathways, including microtubule-based processes and cytoskeleton organization.

Sodium Channelopathies of Skeletal Muscle and Brain

[Physiological Reviews] Scientists review the well-characterized genetics and pathophysiology of the periodic paralyses of skeletal muscle, and then use this information as a foundation for advancing our understanding of mutations in the structurally homologous a subunits of brain sodium channels that cause epilepsy, migraine, autism, and related co-morbidities.

Deletion of FGF9 in GABAergic Neurons Causes Epilepsy

[Cell Death & Disease] Scientists found that loss of Fgf9 in olig1 progenitor cells induced epilepsy in mice, with pathological changes in the cortex. Then depleting Fgf9 in different neural populations revealed that epilepsy was associated with GABAergic neurons.

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