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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

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Title: De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Authors: Heinzen EL; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina, USA., Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E, 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
Corporate Authors: 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
Source: Nature genetics [Nat Genet] 2012 Sep; Vol. 44 (9), pp. 1030-4. Date of Electronic Publication: 2012 Jul 29.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="CA" term="%22European+Alternating+Hemiplegia+of+Childhood+%28AHC%29+Genetics+Consortium%22">European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22Biobanca+e+Registro+Clinico+per+l'Emiplegia+Alternante+%28I%2EB%2EAHC%29+Consortium%22">Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium</searchLink><br /><searchLink fieldCode="CA" term="%22European+Network+for+Research+on+Alternating+Hemiplegia+%28ENRAH%29+for+Small+and+Medium-sized+Enterpriese+%28SMEs%29+Consortium%22">European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2012 Sep; Vol. 44 (9), pp. 1030-4. <i>Date of Electronic Publication: </i>2012 Jul 29.
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