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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14.
Eur J Hum Genet. 2024.
PMID: 38097767
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.
Pisciotta L, Gherzi M, Stagnaro M, Calevo MG, Giannotta M, Vavassori MR, Veneselli E; I.B.AHC Consortium; De Grandis E.
Pisciotta L, et al.
Brain Dev. 2017 Jun;39(6):521-528. doi: 10.1016/j.braindev.2017.02.001. Epub 2017 Feb 27.
Brain Dev. 2017.
PMID: 28249736
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Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.
Cordani R, Stagnaro M, Pisciotta L, Tiziano FD, Calevo MG, Nobili L; I.B.AHC Consortium; De Grandis E.
Cordani R, et al.
Front Neurol. 2021 Apr 8;12:658451. doi: 10.3389/fneur.2021.658451. eCollection 2021.
Front Neurol. 2021.
PMID: 33897609
Free PMC article.
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB.
Heinzen EL, et al.
Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.
Nat Genet. 2012.
PMID: 22842232
Free PMC article.
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