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Child Neurology Open|October 28, 2021
Unique Severe HyperEkplexia-Like Apneic Events (SHELAE) Improved by High-Dose PiracetamJanardhan Krishnappa, Adeline Ngoh, Yeo Tong Hong, et al.
Developmental Medicine and Child Neurology|December 10, 2015
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathyApostolos Papandreou, Amy McTague, Natalie Trump, et al.
Molecular Syndromology|March 30, 2026
<i>STXBP1</i> Encephalopathy: Cannabidiol as a Treatment Option and Expansion of the Genotype-Phenotype Spectrum - Case ReportsAdeline Ngoh, Heming Wei, Tong Hong Yeo, et al.
Developmental Medicine and Child Neurology|April 2, 2014
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrumAdeline Ngoh, Amy McTague, Ingrid M Wentzensen, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|April 22, 2017
<i>TBC1D24</i> Mutations in a Sibship with Multifocal PolymyoclonusAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
JCI Insight|March 27, 2019
Pro-inflammatory, IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsyPavanish Kumar, Derrick Chan Wei Shih, Amanda Lim, et al.
Journal of Medical Genetics|March 20, 2016
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysisNatalie Trump, Amy McTague, Helen Brittain, et al.
Epilepsia|April 11, 2016
RARS2 mutations in a sibship with infantile spasmsAdeline Ngoh, Jose Bras, Rita Guerreiro, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
Annals of Neurology|September 13, 2025
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental StudyAdeline Ngoh, Maria Clark, Rebecca Greenaway, et al.
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