Dr Adeline Ngoh Seow Fen

About

Dr Adeline Ngoh completed her basic medical training in Barts and The London School of Medicine and Dentistry, UK. After specialist training in Paediatrics in various hospitals in London, she was appointed through a highly competitive national selection process to Paediatric Neurology sub-specialty training at Great Ormond Street Hospital for Children, London, UK and Addenbrooke’s Hospital, Cambridge, UK. She received joint specialist accreditation in General Paediatrics and Paediatric Neurology, UK in September 2019.

She is currently completing her PhD research in Developmental Neuroscience on Molecular Genetics and Epileptic Encephalopathy at University College London (UCL) Great Ormond Street, Institute of Child Health, UK, with a research award from Action Medical Research, UK, and Guarantors of Brain. She has also recently received a separate research grant from the Paediatrics Academic Clinical Programme, Singapore, to evaluate genetic variants in refractory epilepsy.

Her research interests lie in studying genetic contribution to neurodevelopmental disorders, particularly childhood epilepsy, to advance our understanding of disease mechanisms underlying these disorders. She hopes that better understanding of disease mechanisms can, in time, pave the way to more effective treatment strategies.

Education and Training

• CCT in Paediatrics and Paediatric Neurology (UK) 2019
• MRCPCH (UK) 2010
• MBBS (UK) 2005
  

Professional Appointments and Committee Memberships

• Consultant, Department of Paediatric Neurology, KK Women’s and Children’s Hospital 2022 - Present
  

Awards

• ILAE International Epilepsy Congress Best Platform Presentation Award, 2019
• Action Medical Research Training Fellowship Award, 2015
• Guarantors of Brain Entry Fellowship Award, 2014
• Friends of Landau Kleffner Syndrome Research Award, 2013
• Guarantors of Brain Travel Grant Award, 2007
• Charrington Prize for Excellence in Final M.B.B.S., 2005
• Sutton Prize for Dissertation on Pharmacogenomics, 2005
• Elective Award (Worshipful Society of Founders), 2005
• Brackenbury Bourne and Magdalen Hughes Scholarship Prize in Medicine – 2004
• Elective Award (National University Hospital), 2004
• Buxton Prize (B) in Anatomy, Physiology and Biochemistry – overall best pre-clinical performance, 2003
• Merit Awards for Excellence in Medical School Examinations 2001-2005

Research Interests

• Genetic contribution to neurological disorders/childhood epilepsy

Publications

• Ngoh A, Barwick K, Trump N, Clark M, Cross JH, Kullmann D, Harvey RJ, Kurian MA. Genetic Heterogeneity In Landau-Kleffner Syndrome. Epilepsia. 2019; 60: 8-9
• Ngoh A, Lynch J, Reid K, Clark M, Moulding D, Malhotra S, Topf M, Erdem FA, Cross JH, Kullmann D, Harvey RJ. Functional Characterization Of GRIN2A Mutations In Landau-Kleffner Syndrome. Epilepsia. 2019; 60: 29-30
• Ngoh A, Yap ZM, Chan DW. Diagnostic Yield Of Genetic Testing In Epileptic Encephalopathy. Epilepsia 2019; 60: 197-197
• Ng J, Barral S, Barrigon CD, Lignani G, Erdem FA, Wallings R, Privolizzi R, Meyer E, Alrashidi H, Heasman S, Ngoh A. Gene Therapy for Infantile Parkinsonism. Molecular Therapy. 2019; 27 (4): 257-257
• Kumar P, Shih DCW, Lim A, Paleja B, Ling S, Li Yun L, Li Poh S, Ngoh A, Arkachaisri T, Yeo JG, Albani S. Pro-inflammatory, IL-17 pathways dominate the architecture of the immunome in pediatric refractory epilepsy. JCI Insight. 2019; 4(8): e126337
• McTague A, Nair U, Malhotra S, Meyer E, Trump N, Gazina EV, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Desurkar A, Eltze C, Kneen R , Kumar AV, Lascelles K, Montgomery T, Ramesh V, Samanta R, Scott RH, Tan J, Whitehouse W, Poduri A, Scheffer IE, Chong WKK, Cross JH2, Topf M, Petrou S, Kurian MA. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. Neurology. 2018;90(1):e55-e66.
  
• Ngoh A, Parker A. New Developments in Epilepsy Management. Invited Review. Paediatrics and Child Health. 2017; 27(6): 281-286
• Ngoh A, Bras J, Guerreiro R, McTague A, Ng J, Meyer E, Chong WK, Boyd S, MacLellan L, Kirkpatrick M, Kurian MA. TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. Tremor Other Hyperkinet Mov (N Y). 2017; 7:452
• Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium, Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. Erratum in: Nat Genet. 2017; 49(6):969
• Meyer E, Carss KJ, Rankin J, Nichols JM., Grozeva, D, Joseph AP, Mencacci NE, Papandreou A., Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D, Pittman A, Carr LJ, Perez-Duenas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature genetics. 2017; 49(2): 223-37 (Impact factor: 27.959)
• Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F. Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. Neuromuscul Disord. 2017; 27(9):793-803.
• Ngoh A, Bras J, Guerreiro R, Meyer E, McTague A, Dawson E, Mankad K, Gunny R, Clayton P, Mills PB, Thornton R, Lai M, Forsyth R, Kurian MA. RARS2 mutations in a sibship with infantile spasms. Epilepsia. 2016; 57(5):e97-e102. doi: 10.1111/epi.13358
• Papandreou A, McTague A, Trump N, Ambegaonkar G, Ngoh A, Meyer E, Scott RH, Kurian MA. GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. Dev Med Child Neurol. 2016;58(4):416-420.
• Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. Delineation of the movement disorders associated with FOXG1 mutations. Neurology. 2016; 86(19):1794-1800
• Trump N, McTague A, Brittain H, Papandreou A, Meyer E, Ngoh A, Palmer R, Morrogh D, Boustred C, Hurst JA, Jenkins L, Kurian MA, Scott RH. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet. 2016; 53(5):310-317.
• Mctague A, Papandreou A, Ngoh A, Ackermann S, Ambegaonkar G, Appleton R, Cross J, Desurkar A, Eltze C, Kneen R, Kumar A. KCNT1 mutations in epilepsy of infancy with migrating focal seizures-emerging phenotypic features and future treatment strategies. Developmental Medicine & Child Neurology; 2015; 57.
• Mctague A, Papandreou A, Trump N, Ngoh A, Scott R, Ambegaonkar G, Kurian M. The first UK case of GABRBR3 mutation causing early onset epilepsy and developmental delay. Developmental Medicine & Child Neurology; 2015;57:27-28.
• Rathod DP, Ngoh A, Krishnakumar DD, Chitre M. Non-thyroidal illness associated with aseptic meningitis in a child. European Journal of Paediatric Neurology, 2015; 19: S129
• Ngoh A, McTague A, Wentzensen IM, Meyer E, Applegate C, Kossoff EH, Batista DA, Wang T, Kurian MA. Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum. Dev Med Child Neurol. 2014; 56(11):1124-1128.
• A McTague, I Wentzensen, E Meyer, A Ngoh, Applegate C, Batista D, Kossof E, Wang T, Kurian MA. Mutations in PLCB1 in early infantile epileptic encephalopathy: expansion of the phenotypic and genotypic disease spectrum. European Journal of Paediatric Neurology. 2013; 17:S57
• Malaspina A, Ngoh SF, Ward RE, Hall JC, Tai FW, Yip PK, Jones C, Jokic N, Averill SA, Michael-Titus AT, Priestley JV. Activation transcription factor-3 activation and the development of spinal cord degeneration in a rat model of amyotrophic lateral sclerosis. Neuroscience. 2010;169(2):812-827