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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Berecki G, Howell KB, Heighway J, Olivier N, Rodda J, Overmars I, Vlaskamp DRM, Ware TL, Ardern-Holmes S, Lesca G, Alber M, Veggiotti P, Scheffer IE, Berkovic SF, Wolff M, Petrou S. Berecki G, et al. Among authors: heighway j. Commun Biol. 2022 May 30;5(1):515. doi: 10.1038/s42003-022-03454-1. Commun Biol. 2022. PMID: 35637276 Free PMC article.
Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.
Li M, Jancovski N, Jafar-Nejad P, Burbano LE, Rollo B, Richards K, Drew L, Sedo A, Heighway J, Pachernegg S, Soriano A, Jia L, Blackburn T, Roberts B, Nemiroff A, Dalby K, Maljevic S, Reid CA, Rigo F, Petrou S. Li M, et al. Among authors: heighway j. J Clin Invest. 2021 Dec 1;131(23):e152079. doi: 10.1172/JCI152079. J Clin Invest. 2021. PMID: 34850743 Free PMC article.
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, Lesca G, Maljevic S, Lerche H. Krüger J, et al. Among authors: heighway j. EBioMedicine. 2022 Oct;84:104244. doi: 10.1016/j.ebiom.2022.104244. Epub 2022 Sep 9. EBioMedicine. 2022. PMID: 36088682 Free PMC article.
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
Mao M, Mattei C, Rollo B, Byars S, Cuddy C, Berecki G, Heighway J, Pachernegg S, Menheniott T, Apted D, Jia L, Dalby K, Nemiroff A, Mullen S, Reid CA, Maljevic S, Petrou S. Mao M, et al. Among authors: heighway j. J Neurosci. 2024 Feb 21;44(8):e0692232023. doi: 10.1523/JNEUROSCI.0692-23.2023. J Neurosci. 2024. PMID: 38148154
Metformin in the prevention of type 2 diabetes after gestational diabetes in postnatal women (OMAhA): a UK multicentre randomised, placebo-controlled, double-blind feasibility trial with nested qualitative study.
Bolou A, Drymoussi Z, Lanz D, Amaefule CE, Gonzalez Carreras FJ, Pardo Llorente MDC, Dodds J, Pizzo E, Thomas A, Heighway J, Harden A, Sanghi A, Hitman G, Zamora J, Pérez T, Huda MSB, Thangaratinam S. Bolou A, et al. Among authors: heighway j. BMJ Open. 2023 Nov 28;13(11):e073813. doi: 10.1136/bmjopen-2023-073813. BMJ Open. 2023. PMID: 38016790 Free PMC article. Clinical Trial.
Myo-inositol nutritional supplement for prevention of gestational diabetes (EMmY): a randomised, placebo-controlled, double-blind pilot trial with nested qualitative study.
Amaefule CE, Drymoussi Z, Gonzalez Carreras FJ, Pardo Llorente MDC, Lanz D, Dodds J, Sweeney L, Pizzo E, Thomas A, Heighway J, Daru J, Sobhy S, Poston L, Khalil A, Myers J, Harden A, Hitman G, Khan KS, Zamora J, Pérez T, Huda MSB, Thangaratinam S. Amaefule CE, et al. Among authors: heighway j. BMJ Open. 2022 Mar 11;12(3):e050110. doi: 10.1136/bmjopen-2021-050110. BMJ Open. 2022. PMID: 35277398 Free PMC article. Clinical Trial.
Effectiveness and acceptability of metformin in preventing the onset of type 2 diabetes after gestational diabetes in postnatal women: a protocol for a randomised, placebo-controlled, double-blind feasibility trial—Optimising health outcomes with Metformin to prevent diAbetes After pregnancy (OMAhA).
Amaefule CE, Bolou A, Drymoussi Z, Gonzalez Carreras FJ, Pardo Llorente MDC, Lanz D, Dodds J, Sweeney L, Pizzo E, D'Amico M, Thomas A, Heighway J, Daru J, Sobhy S, Robson J, Sanghi A, Zamora J, Harden A, Hitman G, Khan K, Pérez T, Huda MS, Thangaratinam S. Amaefule CE, et al. Among authors: heighway j. BMJ Open. 2020 May 17;10(5):e036198. doi: 10.1136/bmjopen-2019-036198. BMJ Open. 2020. PMID: 32423937 Free PMC article.
Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F.
Peter AK, Miller G, Capote J, DiFranco M, Solares-Pérez A, Wang EL, Heighway J, Coral-Vázquez RM, Vergara J, Crosbie-Watson RH. Peter AK, et al. Among authors: heighway j. Skelet Muscle. 2017 Jun 6;7(1):11. doi: 10.1186/s13395-017-0127-9. Skelet Muscle. 2017. PMID: 28587652 Free PMC article.
83 results