PNH with FLNA mutation patients (1998_2019)
Description
All documented PNH patients with FLNA mutations from 1998 to 2019 were collected, and the mutation sites and characteristics of nine clinical systems were summarized
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We performed a literature of all FLNA mutation-positive PNH patients published in the literature from December 1998 until 2019 January. A PubMed search was conducted ,inclusion criteria for patients were: (1) Brain imaging confirmed periventricular nodular heterotopia (PNH), (2) a documented mutation of the FLNA gene, and (3) sufficient medical history.Duplicate reports of the same patient in different articles were also eliminated. Also excluded were patients from studies that aggregated medical, wherein there was insufficient information to correlate an individual's clinical phenotype to their genotype. All members of a family who were FLNA mutation carriers were included, not only the index case.