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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: devlin a. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Coma blisters in 2 children on anticonvulsant medication.
Basu A, Brown S, Kirkham N, Ramesh V, Leech S, Devlin A. Basu A, et al. Among authors: devlin a. J Child Neurol. 2009 Aug;24(8):1021-5. doi: 10.1177/0883073809332771. Epub 2009 Apr 8. J Child Neurol. 2009. PMID: 19359256
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.
Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP; DDD Study; Zuberi SM. Symonds JD, et al. Among authors: devlin am. Epilepsia. 2017 Apr;58(4):565-575. doi: 10.1111/epi.13669. Epub 2017 Feb 6. Epilepsia. 2017. PMID: 28166369 Free article.
Consensus statements on the information to deliver after a febrile seizure.
Loussouarn A, Devlin A, Bast T, Benoist G, Corrard F, Cross H, Ferretti A, Viguer FG, Guerrini R, Klepper J, Meissner T, Milh M, Poltorak V, Raucci U, San Antonio-Arce V, Sie A, Smeyers P, Specchio N, Sutcliffe A, Trauffler A, Dozières-Puyravel B, Auvin S. Loussouarn A, et al. Among authors: devlin a. Eur J Pediatr. 2021 Sep;180(9):2993-2999. doi: 10.1007/s00431-021-04067-2. Epub 2021 Apr 17. Eur J Pediatr. 2021. PMID: 33866403
Unjustified allegation on cancer risks in children of mothers with epilepsy taking high-dose folic acid during pregnancy-No proof of a causal relationship.
von Wrede R, Witt JA, Auvin S, Devlin A, Lagae L, Marson A, Meador KJ, O'Brien TJ, Park J, Surges R, Trinka E, Wiebe S, Helmstaedter C. von Wrede R, et al. Among authors: devlin a. Epilepsia. 2023 Sep;64(9):2239-2243. doi: 10.1111/epi.17680. Epub 2023 Jun 28. Epilepsia. 2023. PMID: 37309815 No abstract available.
306 results