RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

doi:10.1212/WNL.0000000000011543

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Article

RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

Neurology - 16 Mar 2021

Zagaglia Sara, Steel Dora, Krithika S, Hernandez-Hernandez Laura, Custodio Helena Martins, Gorman Kathleen M, Vezyroglou Aikaterini, Møller Rikke S, King Mary D, Hammer Trine Bjørg, Spaull Robert, Fazeli Walid, Bartolomaeus Tobias, Doummar Diane, Keren Boris, Mignot Cyril, Bednarek Nathalie, Cross J Helen, Mallick Andrew A, Sanchis-Juan Alba, Basu Anna, Raymond F Lucy, Lynch Bryan J, Majumdar Anirban, Stamberger Hannah, Weckhuysen Sarah, Sisodiya Sanjay M, Kurian Manju A

Abstract excerpt

OBJECTIVE: To explore the phenotypic spectrum of RHOBTB2-related disorders and specifically to determine whether patients fulfill criteria for alternating hemiplegia of childhood (AHC), we report the clinical features of 11 affected individuals. METHODS: Individuals with RHOBTB2-related disorders were identified through a movement disorder clinic at a specialist pediatric center, with additional cases identified...

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PMID: 33504645
DOI: 10.1212/WNL.0000000000011543
PMCID: PMC8032376

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