Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature
Sibel Öz Yıldız,
Dilek Yalnızoğlu,
Pelin Özlem Şimsek Kiper
et al.
Abstract:ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had… Show more
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