A case report of PRRT2 mutation-associated familial convulsions with paroxysmal choreoathetosis syndrome

Diagnostics and differential diagnostics of inherited metabolic diseases in children have still been complicated. The diagnostic difficulties are due to the fact that the diseases are orphan and their recognition is not always timely. Objective. To improve the diagnosis of familial convulsions wi...

Full description

Saved in:
Bibliographic Details
Main Authors: M. A. Trishchynska, V. O. Svystilnyk
Format: Article
Language:English
Published: Zaporizhzhia State Medical and Pharmaceutical University 2019-12-01
Series:Zaporožskij Medicinskij Žurnal
Subjects:
Online Access:http://zmj.zsmu.edu.ua/article/view/186722/187487
Tags: Add Tag
No Tags, Be the first to tag this record!