Publications by authors named "Adeline Ngoh"

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Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.
Adeline Ngoh, Maria Clark, Rebecca Greenaway, Xiumin Chen, Kimberley M Reid

Ann Neurol· November 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Adeline Ngoh

ArXiv· February 2025

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Targeting heterozygous dominant negative variant of using Gapmer ASO for the treatment of drug-resistant epilepsy.
Hua Huang, Dong Rui Ma, Derrick Wei Shih Chan, Adeline Seow Fen Ngoh, Dejie Yu

Mol Ther Nucleic Acids· December 2024

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Molecular and Phenotypic Characterization of the -Related Disorder.
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Adeline Ngoh

Neurology· January 2024

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Parents' priorities for decision-making of pediatric epilepsy treatments and perceived needs for decision support in multi-ethnic Asian clinical setting: A qualitative analysis.
Sungwon Yoon, Hendra Goh, Chuan Ping Foo, Martha I M Kao, Szu Liang Hie, Adeline Seow Fen Ngoh

Epilepsy Behav· October 2022

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Single-cell transcriptomics and surface epitope detection in human brain epileptic lesions identifies pro-inflammatory signaling.
Pavanish Kumar, Amanda Lim, Sharifah Nur Hazirah, Camillus Jian Hui Chua, Adeline Ngoh

Nat Neurosci· July 2022

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Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose Piracetam.
Janardhan Krishnappa, Adeline Ngoh, Yeo Tong Hong, Chen ChunLiang, Chan Wei Shih Derrick

Child Neurol Open· October 2021

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Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.
Joanne Ng, Serena Barral, Carmen De La Fuente Barrigon, Gabriele Lignani, Fatma A Erdem, Adeline Ngoh

Sci Transl Med· May 2021

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Adeline Ngoh

Brain· December 2020

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Pro-inflammatory, IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy.
Pavanish Kumar, Derrick Chan Wei Shih, Amanda Lim, Bhairav Paleja, Simon Ling, Adeline Ngoh

JCI Insight· March 2019

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Clinical and molecular characterization of -related severe early-onset epilepsy.
Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Adeline Ngoh

Neurology· January 2018

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Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Adeline Ngoh

Nat Genet· May 2017

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Mutations in a Sibship with Multifocal Polymyoclonus.
Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng

Tremor Other Hyperkinet Mov (N Y)· April 2017

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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Adeline Ngoh

Nat Genet· February 2017

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Adeline Ngoh

J Med Genet· May 2016

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Delineation of the movement disorders associated with FOXG1 mutations.
Apostolos Papandreou, Ruth B Schneider, Erika F Augustine, Joanne Ng, Kshitij Mankad, Adeline Ngoh

Neurology· May 2016

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RARS2 mutations in a sibship with infantile spasms.
Adeline Ngoh, Jose Bras, Rita Guerreiro, Esther Meyer, Amy McTague

Epilepsia· May 2016

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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Apostolos Papandreou, Amy McTague, Natalie Trump, Gautam Ambegaonkar, Adeline Ngoh

Dev Med Child Neurol· April 2016

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Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.
Adeline Ngoh, Amy McTague, Ingrid M Wentzensen, Esther Meyer, Carolyn Applegate

Dev Med Child Neurol· November 2014

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