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Title:

Connectome Analysis in an Individual with SETD1B -Related Neurodevelopmental Disorder and Epilepsy.

Document type:
Case Reports; Journal Article
Author(s):
Weng, Rosa; Nenning, Karl-Heinz; Schwarz, Michelle; Riedhammer, Korbinian M; Brunet, Theresa; Wagner, Matias; Kasprian, Gregor; Lehrner, Johann; Zimprich, Fritz; Bonelli, Silvia B; Krenn, Martin
Abstract:
OBJECTIVE: Causative variants in SETD1B , encoding a lysine-specific methyltransferase, have recently been associated with a neurodevelopmental phenotype encompassing intellectual disability, autistic features, pronounced language delay, and epilepsy. It has been noted that long-term and deep phenotype data are needed to further delineate this rare condition. METHODS: In this study, we provide an in-depth clinical characterization with long-term follow-up and trio exome sequencing findings to de...     »
Journal title abbreviation:
J Dev Behav Pediatr
Year:
2022
Journal volume:
43
Journal issue:
6
Pages contribution:
e419-e422
Fulltext / DOI:
doi:10.1097/DBP.0000000000001079
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/35385430
Print-ISSN:
0196-206X
TUM Institution:
Institut für Humangenetik; Professur für Nephrologie (Prof. Heemann)
 BibTeX