Gerald Nwosu
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Explore the profile of Gerald Nwosu including associated specialties, affiliations and a list of published articles.
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Citations
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Recent Articles
1.
Poliquin S, Nwosu G, Randhave K, Shen W, Flamm C, Kang J
Int J Mol Sci
. 2024 May;
25(9).
PMID: 38731820
A significant number of patients with genetic epilepsy do not obtain seizure freedom, despite developments in new antiseizure drugs, suggesting a need for novel therapeutic approaches. Many genetic epilepsies are...
2.
Shen W, Nwosu G, Honer M, Clasadonte J, Schmalzbauer S, Biven M, et al.
Brain Commun
. 2024 Apr;
6(2):fcae110.
PMID: 38650830
We have previously characterized the molecular mechanisms for variants in γ-aminobutyric acid transporter 1-encoding solute carrier family 6-member 1 () and concluded that a partial or complete loss of γ-aminobutyric...
3.
Shen W, Flamm C, Delahanty A, Casteel E, Biven M, DeLeeuw M, et al.
Epilepsia
. 2023 Sep;
65(1):204-217.
PMID: 37746768
Objective: γ-Aminobutyric acid type A (GABA ) receptor subunit gene mutations are major causes of various epilepsy syndromes, including severe kinds such as Dravet syndrome. Although the GABA receptor is...
4.
Qu S, Jackson L, Zhou C, Shen D, Shen W, Nwosu G, et al.
Epilepsia
. 2022 Dec;
64(4):1061-1073.
PMID: 36495145
Objective: Infantile spasms is an epileptic encephalopathy of childhood, and its pathophysiology is largely unknown. We generated a heterozygous knock-in mouse with the human infantile spasms-associated de novo mutation GABRB3...
5.
Nwosu G, Reddy S, Riordan H, Kang J
Int J Mol Sci
. 2022 Sep;
23(17).
PMID: 36077081
Mutations in GABA receptor subunit genes () are a major etiology for developmental and epileptic encephalopathies (DEEs). This article reports a case of a genetic abnormality in and updates the...
6.
Nwosu G, Mermer F, Flamm C, Poliquin S, Shen W, Rigsby K, et al.
Brain Commun
. 2022 Aug;
4(3):fcac144.
PMID: 35911425
We have studied the molecular mechanisms of variants in solute carrier Family 6 Member 1 associated with neurodevelopmental disorders, including various epilepsy syndromes, autism and intellectual disability. Based on functional...
7.
Mermer F, Poliquin S, Zhou S, Wang X, Ding Y, Yin F, et al.
Neurobiol Dis
. 2022 Jul;
172:105810.
PMID: 35840120
Objective: Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1 have been associated with myoclonic atonic epilepsy and other phenotypes. We determined the patho-mechanisms of the mutant GAT-1, in order...
8.
Mermer F, Poliquin S, Rigsby K, Rastogi A, Shen W, Romero-Morales A, et al.
Brain
. 2021 May;
144(8):2499-2512.
PMID: 34028503
Solute carrier family 6 member 1 (SLC6A1) is abundantly expressed in the developing brain even before the CNS is formed. Its encoded GABA transporter 1 (GAT-1) is responsible for the...
9.
Wang J, Poliquin S, Mermer F, Eissman J, Delpire E, Wang J, et al.
Mol Brain
. 2020 May;
13(1):76.
PMID: 32398021
Mutations in SLC6A1, encoding γ-aminobutyric acid (GABA) transporter 1 (GAT-1), have been recently associated with a spectrum of epilepsy syndromes, intellectual disability and autism in clinic. However, the pathophysiology of...
10.
Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, et al.
Exp Neurol
. 2019 Jun;
320:112973.
PMID: 31176687
Background: Mutations in SLC6A1 have been associated mainly with myoclonic atonic epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in a patient with Lennox-Gastaut syndrome (LGS) characterized...