Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

The two aims of this study were (i) to describe and expand the phenotypic spectrum of PIGT deficiency in affected individuals harboring the c.1582G>A; p.Val528Met or the c.1580A > G; p.Asn527Ser variant in either homozygous or compound heterozygous state, and (ii) to identify potential...

Full description

Bibliographic Details
Main Authors: Allan Bayat, Manuela Pendziwiat, Ewa Obersztyn, Paula Goldenberg, Pia Zacher, Jan Henje Döring, Steffen Syrbe, Amber Begtrup, Artem Borovikov, Artem Sharkov, Aneta Karasińska, Maria Giżewska, Wendy Mitchell, Eva Morava, Rikke S. Møller, Guido Rubboli
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
myoclonic-atonic seizures
generalized seizures
disease severity
developmental delay
glycosylphosphatidylinositol biosynthesis defects
inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.663643/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.663643/full

Similar Items