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Document type:
Article
Author(s):
Krenn, Martin; Knaus, Alexej; Westphal, Dominik S.; Wortmann, Saskia B.; Polster, Tilman; Woermann, Friedrich G.; Karenfort, Michael; Mayatepek, Ertan; Meitinger, Thomas; Wagner, Matias; Distelmaier, Felix
Title:
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Abstract:
Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of the genes involved, PIGP, has recently been associated with infantile seizures and developmental delay in two siblings. Here, we report the second family with a markedly overlapping phenotype due to a homozyg...     »
Journal title abbreviation:
Ann Clin Transl Neurol
Year:
2019
Journal volume:
6
Journal issue:
5
Pages contribution:
968-973
Fulltext / DOI:
doi:10.1002/acn3.768
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/31139695
TUM Institution:
Institut für Humangenetik
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