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Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier.

Parkinsonism Relat Disord. 2020;77:87-88. doi:10.1016/j.parkreldis.2020.06.028 [published online ahead of print, 2020 Jun 29].

Authors/Editors: Necpál J, Zech M, Valachová A, Sedláček Z, Bendová Š, Hančárová M, Okáľová K, Winkelmann J, Jech R.
Publication Date: 2020


Abstract

Mutations in the RHOBTB2 gene (MIM:607352) have recently been associated with neurodevelopmental abnormalities, infantile-onsetepileptic encephalopathy with various seizure types, intellectual dis-abilities, postnatal microcephaly with minor facial dysmorphia, andchoreic or dystonic syndromes of paroxysmal nature [1,2]. 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.

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