Skip to Main Content

Paper Details

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain
7
2023
CLDN5, CLDN5 gene, Claudin-5, brain calcifications, developmental delay, disruption of the blood-brain barrier, focal epilepsy, human, impaired neuronal function, loss of function alleles, microcephaly, neurodevelopmental disorder, patient, patients, pontine atrophy, seizures, zebrafish
Author NameAffiliation
Sian EllardRoyal Devon & Exeter NHS Foundation Trust
Hana Lango AllenInstitute of Metabolic Science, University of Cambridge
Hana Lango AllenInstitute of Metabolic Science, University of Cambridge
Stephen W SchererResearch Institute, The Hospital for Sick Children
Stephen W SchererThe Hospital for Sick Children
Stephen W SchererResearch Institute, The Hospital for Sick Children
Stephen W SchererThe Hospital for Sick Children
Mark A TarnopolskyMcMaster University
Jennifer FriedmanRady Children's Institute for Genomic Medicine
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanUniversity of California San Diego
  • 1 - 11

Datasets

Release 1.2