Search Results - "Randhave, Karishma"
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Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome
Published in International journal of molecular sciences (01-05-2024)“…A significant number of patients with genetic epilepsy do not obtain seizure freedom, despite developments in new antiseizure drugs, suggesting a need for…”
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GABAA Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox–Gastaut Syndrome
Published in International journal of molecular sciences (08-05-2023)“…Lennox–Gastaut Syndrome (LGS) is a developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types, electroencephalogram (EEG)…”
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GABA A Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome
Published in International journal of molecular sciences (01-05-2023)“…Lennox-Gastaut Syndrome (LGS) is a developmental and epileptic encephalopathy (DEE) characterized by multiple seizure types, electroencephalogram (EEG)…”
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4‐Phenylbutyrate promoted wild‐type γ‐aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome
Published in Epilepsia (Copenhagen) (01-01-2024)“…Objective γ‐Aminobutyric acid type A (GABAA) receptor subunit gene mutations are major causes of various epilepsy syndromes, including severe kinds such as…”
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