Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

Ana Westenberger; Christoph Max; Norbert Brüggemann; Aloysius Domingo; Karen Grütz; Heike Pawlack; Anne Weissbach; Andrea A. Kühn; Juliane Spiegler; Anthony E. Lang; Jürgen Sperner; Victor S.C. Fung; Jens Schallner; Gabriele Gillessen-Kaesbach; Alexander Münchau; Christine Klein

doi:10.1016/j.jpeds.2016.10.079

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

Ana Westenberger^*, Christoph Max, Norbert Brüggemann, Aloysius Domingo, Karen Grütz, Heike Pawlack, Anne Weissbach, Andrea A. Kühn, Juliane Spiegler, Anthony E. Lang, Jürgen Sperner, Victor S.C. Fung, Jens Schallner, Gabriele Gillessen-Kaesbach, Alexander Münchau, Christine Klein

^*Korrespondierende/r Autor/-in für diese Arbeit

3 Zitate (Scopus)

Abstract

Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.

Originalsprache	Englisch
Zeitschrift	Journal of Pediatrics
Jahrgang	181
Seiten (von - bis)	306-308
Seitenumfang	3
ISSN	0022-3476
DOIs	https://doi.org/10.1016/j.jpeds.2016.10.079
Publikationsstatus	Veröffentlicht - 01.02.2017

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Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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10.1016/j.jpeds.2016.10.079

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Westenberger, A., Max, C., Brüggemann, N., Domingo, A., Grütz, K., Pawlack, H., Weissbach, A., Kühn, A. A., Spiegler, J., Lang, A. E., Sperner, J., Fung, V. S. C., Schallner, J., Gillessen-Kaesbach, G., Münchau, A., & Klein, C. (2017). Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases. Journal of Pediatrics, 181, 306-308. https://doi.org/10.1016/j.jpeds.2016.10.079

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title = "Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases",

abstract = "Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.",

author = "Ana Westenberger and Christoph Max and Norbert Br{\"u}ggemann and Aloysius Domingo and Karen Gr{\"u}tz and Heike Pawlack and Anne Weissbach and K{\"u}hn, {Andrea A.} and Juliane Spiegler and Lang, {Anthony E.} and J{\"u}rgen Sperner and Fung, {Victor S.C.} and Jens Schallner and Gabriele Gillessen-Kaesbach and Alexander M{\"u}nchau and Christine Klein",

year = "2017",

month = feb,

day = "1",

doi = "10.1016/j.jpeds.2016.10.079",

language = "English",

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pages = "306--308",

journal = "Journal of Pediatrics",

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Westenberger, A , Max, C , Brüggemann, N, Domingo, A, Grütz, K, Pawlack, H, Weissbach, A, Kühn, AA, Spiegler, J, Lang, AE, Sperner, J, Fung, VSC, Schallner, J, Gillessen-Kaesbach, G, Münchau, A & Klein, C 2017, 'Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases', Journal of Pediatrics, Jg. 181, S. 306-308. https://doi.org/10.1016/j.jpeds.2016.10.079

TY - JOUR

T1 - Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

AU - Westenberger, Ana

AU - Max, Christoph

AU - Brüggemann, Norbert

AU - Domingo, Aloysius

AU - Grütz, Karen

AU - Pawlack, Heike

AU - Weissbach, Anne

AU - Kühn, Andrea A.

AU - Spiegler, Juliane

AU - Lang, Anthony E.

AU - Sperner, Jürgen

AU - Fung, Victor S.C.

AU - Schallner, Jens

AU - Gillessen-Kaesbach, Gabriele

AU - Münchau, Alexander

AU - Klein, Christine

PY - 2017/2/1

Y1 - 2017/2/1

N2 - Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.

AB - Mutations in the adenylate cyclase 5 (ADCY5) gene recently have been identified as the cause of a childhood-onset disorder characterized by persistent or paroxysmal choreic, myoclonic, and/or dystonic movements. The 2 novel mutations we identified expand the clinical spectrum of ADCY5 mutations to include alternating hemiplegia of childhood.

UR - http://www.scopus.com/inward/record.url?scp=85007574684&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2016.10.079

DO - 10.1016/j.jpeds.2016.10.079

M3 - Journal articles

C2 - 27931826

AN - SCOPUS:85007574684

SN - 0022-3476

VL - 181

SP - 306

EP - 308

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases

Abstract

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