Adeline F. Ngoh

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 19 publications

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv
Published: February 24, 2025

STXBP1 Encephalopathy: Cannabidiol as a Treatment Option and Expansion of the Genotype-Phenotype Spectrum - Case Reports.

STXBP1 Encephalopathy: Cannabidiol as a Treatment Option and Expansion of the Genotype-Phenotype Spectrum - Case Reports.

Journal: Molecular syndromology
Published: August 31, 2024

Targeting heterozygous dominant negative variant of KCNA2 using Gapmer ASO for the treatment of drug-resistant epilepsy.

Targeting heterozygous dominant negative variant of KCNA2 using Gapmer ASO for the treatment of drug-resistant epilepsy.

Journal: Molecular therapy. Nucleic acids
Published: June 13, 2024

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Journal: Annals of neurology
Published: February 09, 2024

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Journal: Neurology
Published: January 02, 2024

Parents' priorities for decision-making of pediatric epilepsy treatments and perceived needs for decision support in multi-ethnic Asian clinical setting: A qualitative analysis.

Parents' priorities for decision-making of pediatric epilepsy treatments and perceived needs for decision support in multi-ethnic Asian clinical setting: A qualitative analysis.

Journal: Epilepsy & behavior : E&B
Published: May 07, 2022

Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling.

Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling.

Journal: Nature neuroscience
Published: July 20, 2021

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: Brain : a journal of neurology
Published: May 15, 2020

Pro-inflammatory, IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy.

Pro-inflammatory, IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy.

Journal: JCI insight
Published: March 27, 2019

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.

Journal: Science translational medicine
Published: December 07, 2018

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Journal: Nature genetics
Published: May 27, 2017

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: January 25, 2017
Showing 1-12 of 19

Last Updated: 09/26/2026