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- W3040507088 abstract "Mutations in the RHOBTB2 gene (MIM: 607352) have recently been associated with neurodevelopmental abnormalities, infantile-onset epileptic encephalopathy with various seizure types, intellectual disabilities, postnatal microcephaly with minor facial dysmorphia, and choreic or dystonic syndromes of paroxysmal nature [ [1] Straub J. Konrad E.D.H. Grüner J. Toutain A. Bok L.A. Cho M.T. Crawford H.P. Dubbs H. Douglas G. Jobling R. Johnson D. Krock B. Mikati M.A. Nesbitt A. Nicolai J. Phillips M. Poduri A. Ortiz-Gonzalez X.R. Powis Z. Santani A. Smith L. Stiegmann A.P.A. Stumpel C. Vreeburg M. Deciphering Developmental Disorders Study Fliedner A. Gregor A. Sticht H. Zweier C. Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological deficits in Drosophila. Am. J. Hum. Genet. 2018; 102: 44-57 Abstract Full Text Full Text PDF PubMed Scopus (28) Google Scholar , [2] Belal H. Nakashima M. Matsumoto H. Yokochi K. Taniguchi-Ikeda M. Aoto K. Amin M.B. Maruyama A. Nagase H. Mizuguchi T. Miyatake S. Miyake N. Iijima K. Nonoyama S. Matsumoto N. Saitsu H. De novo variants in RHOBTB2, an atypical RhoGTPase gene, cause epileptic encephalopathy. Hum. Mutat. 2018; 39: 1070-1075 Crossref PubMed Scopus (9) Google Scholar ]. Here we present a patient with a recurrent RHOBTB2 mutation who had severe paroxysmal choreodystonia and aplasia cutis congenita (ACC), a feature that has not yet been described in association with RHOBTB2 variants, but no epilepsy." @default.
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- W3040507088 date "2020-08-01" @default.
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- W3040507088 title "Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier" @default.
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- W3040507088 doi "https://doi.org/10.1016/j.parkreldis.2020.06.028" @default.
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