Browse by UCL people
Group by: Type | Date
Number of items: 33.
Article
AlMail, Ali;
Jamjoom, Ahmed;
Pan, Amy;
Feng, Min Yi;
Chau, Vann;
D'Gama, Alissa M;
Howell, Katherine;
... Costain, Gregory; + view all
(2024)
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
npj Genomic Medicine
, 9
(1)
, Article 27. 10.1038/s41525-024-00408-w.
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Brunklaus, Andreas;
Bruenger, Tobias;
Feng, Tony;
Fons, Carmen;
Lehikoinen, Anni;
Panagiotakaki, Eleni;
Vintan, Mihaela-Adela;
... Cestele, Sandrine; + view all
(2022)
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brain
, 145
(11)
pp. 3816-3831.
10.1093/brain/awac210.
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Burgess, R;
Wang, S;
McTague, A;
Boysen, KE;
Yang, X;
Zeng, Q;
Myers, KA;
... Scheffer, IE; + view all
(2019)
Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Annals of Neurology
, 86
(6)
pp. 821-831.
10.1002/ana.25619.
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D'Gama, Alissa M;
Mulhern, Sarah;
Sheidley, Beth R;
Boodhoo, Fadil;
Buts, Sarah;
Chandler, Natalie J;
Cobb, Joanna;
... McTague, Amy; + view all
(2023)
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
The Lancet Neurology
, 22
(9)
pp. 812-825.
10.1016/S1474-4422(23)00246-6.
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Danti, FR;
Galosi, S;
Romani, M;
Montomoli, M;
Carss, KJ;
Raymond, FL;
Parrini, E;
... Guerrini, R; + view all
(2017)
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Neurology Genetics
, 3
(2)
, Article e143. 10.1212/NXG.0000000000000143.
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Datta, AN;
Bahi-Buisson, N;
Bienvenu, T;
Buerki, SE;
Gardiner, F;
Cross, JH;
Heron, B;
... Lemke, JR; + view all
(2021)
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
10.1111/epi.16761.
(In press).
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Eriksson, Maria H;
Whitaker, Kirstie J;
Booth, John;
Piper, Rory J;
Chari, Aswin;
Martin Sanfilippo, Patricia;
Caballero, Ana Perez;
... Baldeweg, Torsten; + view all
(2023)
Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes.
Epilepsia
10.1111/epi.17670.
(In press).
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Gorman, KM;
Meyer, E;
Grozeva, D;
Spinelli, E;
McTague, A;
Sanchis-Juan, A;
Carss, KJ;
... Kurian, MA; + view all
(2019)
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
American Journal of Human Genetics
, 104
(5)
pp. 948-956.
10.1016/j.ajhg.2019.03.005.
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Howell, KB;
White, SM;
McTague, A;
D’Gama, AM;
Costain, G;
Poduri, A;
Scheffer, IE;
... Scherer, SW; + view all
(2025)
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.
npj Genomic Medicine
, 10
, Article 13. 10.1038/s41525-025-00474-8.
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Johannesen, KM;
Iqbal, S;
Guazzi, M;
Mohammadi, NA;
Pérez-Palma, E;
Schaefer, E;
De Saint Martin, A;
... Gardella, E; + view all
(2022)
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations.
Genetics in Medicine
, 24
(3)
pp. 681-693.
10.1016/j.gim.2021.11.004.
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Klöckner, C;
Sticht, H;
Zacher, P;
Popp, B;
Bakker, DP;
Barwick, K;
Bonfert, MV;
... Platzer, K; + view all
(2021)
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Genetics in Medicine
, 23
pp. 653-660.
10.1038/s41436-020-01020-w.
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Lenaerts, L;
Reynhout, S;
Verbinnen, I;
Laumonnier, F;
Toutain, A;
Bonnet-Brilhault, F;
Hoorne, Y;
... Janssens, V; + view all
(2020)
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genetics in Medicine
10.1038/s41436-020-00981-2.
(In press).
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McTague, Amy;
Brunklaus, Andreas;
Barcia, Giulia;
Varadkar, Sophia;
Zuberi, Sameer M;
Chatron, Nicolas;
Parrini, Elena;
... Lesca, Gaetan; + view all
(2022)
Defining causal variants in rare epilepsies: An essential team effort between biomedical scientists, geneticists and epileptologists.
European Journal of Medical Genetics
, 65
(7)
, Article 104531. 10.1016/j.ejmg.2022.104531.
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Mctague, A;
(2019)
Navigating the genetic landscape of childhood epilepsy: a new perspective?
Developmental Medicine & Child Neurology
, 61
(8)
pp. 858-859.
10.1111/dmcn.14203.
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McTague, A;
Martland, T;
Appleton, R;
(2018)
Drug management for acute tonic-clonic convulsions including convulsive status epilepticus in children.
Cochrane Database of Systematic Reviews
, 1
, Article CD001905. 10.1002/14651858.CD001905.pub3.
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McTague, A;
Nair, U;
Malhotra, S;
Meyer, E;
Trump, N;
Gazina, EV;
Papandreou, A;
... Kurian, MA; + view all
(2018)
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.
Neurology
, 90
(1)
e55-e66.
10.1212/WNL.0000000000004762.
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Mitta, N;
Menon, RN;
McTague, A;
Radhakrishnan, A;
Sundaram, S;
Cherian, A;
Madhavilatha, GK;
... Thomas, SV; + view all
(2020)
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Epilepsy Research
, 166
, Article 106398. 10.1016/j.eplepsyres.2020.106398.
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Myers, KA;
Marini, C;
Carvill, GL;
McTague, A;
Panetta, J;
Stutterd, C;
Stanley, T;
... Scheffer, IE; + view all
(2021)
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.
Neurology Genetics
, 7
(2)
e579-e579.
10.1212/nxg.0000000000000579.
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Ngoh, A;
Bras, J;
Guerreiro, R;
McTague, A;
Ng, J;
Meyer, E;
Chong, WK;
... Kurian, MA; + view all
(2017)
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Tremor and other Hyperkinetic Movements
, 7
10.7916/D8Q52VBV.
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Ngoh, A;
Bras, J;
Guerreiro, R;
Meyer, E;
McTague, A;
Dawson, E;
Mankad, K;
... Kurian, MA; + view all
(2016)
RARS2 mutations in a sibship with infantile spasms.
Epilepsia
, 57
(5)
e97-e102.
10.1111/epi.13358.
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Ngoh, A;
McTague, A;
Wentzensen, IM;
Meyer, E;
Applegate, C;
Kossoff, EH;
Batista, DA;
... Kurian, MA; + view all
(2014)
Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.
Dev Med Child Neurol
, 56
(11)
1124 - 1128.
10.1111/dmcn.12450.
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O'Callaghan, FJK;
Edwards, SW;
Dietrich Alber, F;
Cortina Borja, M;
Hancock, E;
Johnson, AL;
Kennedy, CR;
... Osborne, JP; + view all
(2018)
Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial.
The Lancet Child & Adolescent Health
, 2
(10)
pp. 715-725.
10.1016/S2352-4642(18)30244-X.
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Palmer, Elizabeth E;
Pusch, Michael;
Picollo, Alessandra;
Forwood, Caitlin;
Nguyen, Matthew H;
Suckow, Vanessa;
Gibbons, Jessica;
... Kalscheuer, Vera M; + view all
(2022)
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Molecular Psychiatry
10.1038/s41380-022-01852-9.
(In press).
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Papandreou, A;
Danti, FR;
Spaull, R;
Leuzzi, V;
Mctague, A;
Kurian, MA;
(2020)
The expanding spectrum of movement disorders in genetic epilepsies.
Developmental Medicine & Child Neurology
, 62
(2)
pp. 178-191.
10.1111/dmcn.14407.
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Papandreou, A;
McTague, A;
Trump, N;
Ambegaonkar, G;
Ngoh, A;
Meyer, E;
Scott, RH;
(2016)
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Developmental Medicine and Child Neurology
, 58
(4)
pp. 416-420.
10.1111/dmcn.12976.
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Papandreou, A;
Schneider, RB;
Augustine, EF;
Ng, J;
Mankad, K;
Meyer, E;
McTague, A;
... Kurian, MA; + view all
(2016)
Delineation of the movement disorders associated with FOXG1 mutations.
Neurology
, 86
(19)
pp. 1794-1800.
10.1212/WNL.0000000000002585.
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Sanchis-Juan, A;
Megy, K;
Stephens, J;
Armirola Ricaurte, C;
Dewhurst, E;
Low, K;
French, CE;
... Carss, KJ; + view all
(2023)
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
American Journal of Human Genetics
, 110
(8)
pp. 1343-1355.
10.1016/j.ajhg.2023.07.007.
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Sanchis-Juan, A;
Hasenahuer, MA;
Baker, JA;
McTague, A;
Barwick, K;
Kurian, MA;
Duarte, ST;
... Raymond, FL; + view all
(2020)
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Molecular Genetics & Genomic Medicine
, Article e1106. 10.1002/mgg3.1106.
(In press).
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Scheffer, Ingrid E;
Zuberi, Sameer;
Mefford, Heather C;
Guerrini, Renzo;
McTague, Amy;
(2024)
Developmental and epileptic encephalopathies.
Nature Reviews Disease Primers
, 10
, Article 61. 10.1038/s41572-024-00546-6.
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Stödberg, T;
McTague, A;
Ruiz, AJ;
Hirata, H;
Zhen, J;
Long, P;
Farabella, I;
... Kurian, MA; + view all
(2015)
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Nature Communications
, 6
p. 8038.
10.1038/ncomms9038.
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Symonds, JD;
McTague, A;
(2020)
Epilepsy and developmental disorders: Next generation sequencing in the clinic.
European Journal of Paediatric Neurology
, 24
pp. 15-23.
10.1016/j.ejpn.2019.12.008.
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Trump, N;
McTague, A;
Brittain, H;
Papandreou, A;
Meyer, E;
Ngoh, A;
Palmer, R;
... Scott, RH; + view all
(2016)
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Journal of Medical Genetics
, 53
(5)
pp. 310-317.
10.1136/jmedgenet-2015-103263.
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Thesis
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McTague, Amy;
(2018)
The Molecular Genetic Investigation of Epilepsy of Infancy with Migrating Focal Seizures.
Doctoral thesis (Ph.D), UCL (University College London).
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