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Titel:

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

Dokumenttyp:
Article
Autor(en):
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
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...     »
Zeitschriftentitel:
Ann Clin Transl Neurol
Jahr:
2019
Band / Volume:
6
Heft / Issue:
5
Seitenangaben Beitrag:
968-973
Volltext / DOI:
doi:10.1002/acn3.768
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31139695
TUM Einrichtung:
Institut für Humangenetik
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