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Page 1
The genetic and phenotypic spectrum of GABRB1-related disorders.
Millevert C, Kan ASH, Hanke M, Koko M, Omidvar ME, Hedrich UBS, Wuttke TV, Barišić N, Lagae L, Aledo-Serrano Á, Niehoff EM, Platzer K, Zacher P, Polster T, Dilena R, Monfrini E, Geneviève D, Roubertie A, Bruel AL, Tran Mau-Them F, Dasouki M, Cohen S, Helbig I, Harrison AG, Colin E, Dubbs HA, Marsh ED, Lebon S, He N, Meng H, Chebib M, Møller RS, Marini C, Ahring PK, Lerche H, Weckhuysen S. Millevert C, et al. Brain. 2025 Jun 5:awaf213. doi: 10.1093/brain/awaf213. Online ahead of print. Brain. 2025. PMID: 40472023
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.
Moya-Mendez ME, Bidzimou MT, Muralidharan P, Zhang Z, Ezekian JE, Perelli RM, Parker LE, Prange L, Boggs A, Kim JJ, Howard TS, Word TA, Wehrens XHT, Reyes Valenzuela G, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Zawadzka M, Mazurkiewicz-Beldzinska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Pavlicek M, Ess K, Simmons CQ, George AL Jr, Vavassori R, Mikati MA, Landstrom AP. Moya-Mendez ME, et al. Among authors: millevert c. JAMA Pediatr. 2025 May 1;179(5):529-539. doi: 10.1001/jamapediatrics.2024.6832. JAMA Pediatr. 2025. PMID: 40029639
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study.
De Wachter M, Millevert C, Nicolai J, Cats E, Kluger G, Milh M, Cloarec R, Syrbe S, Arts K, Jansen K, Krygier M, Smigiel R, Auvin S, Olofson K, Gjerulfsen CE, Ceulemans B, Møller RS, Bayat A, Weckhuysen S. De Wachter M, et al. Among authors: millevert c. Epilepsia. 2025 May;66(5):1628-1640. doi: 10.1111/epi.18310. Epub 2025 Feb 17. Epilepsia. 2025. PMID: 39962862 Free PMC article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, Landstrom AP. Srour MK, et al. Among authors: millevert c. medRxiv [Preprint]. 2024 Oct 31:2024.08.31.24312446. doi: 10.1101/2024.08.31.24312446. medRxiv. 2024. PMID: 39252916 Free PMC article. Preprint.
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.
Miceli F, Millevert C, Soldovieri MV, Mosca I, Ambrosino P, Carotenuto L, Schrader D, Lee HK, Riviello J, Hong W, Risen S, Emrick L, Amin H, Ville D, Edery P, de Bellescize J, Michaud V, Van-Gils J, Goizet C, Willemsen MH, Kleefstra T, Møller RS, Bayat A, Devinsky O, Sands T, Korenke GC, Kluger G, Mefford HC, Brilstra E, Lesca G, Milh M, Cooper EC, Taglialatela M, Weckhuysen S. Miceli F, et al. Among authors: millevert c. EBioMedicine. 2022 Jul;81:104130. doi: 10.1016/j.ebiom.2022.104130. Epub 2022 Jun 30. EBioMedicine. 2022. PMID: 35780567 Free PMC article.
12 results