Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Matilda R. Jackson, Karagh E. Loring, Claire C. Homan, Monica H. N. Thai, Laura Maattanen, Maria Arvio, Irma Järvelä, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number201900386
JournalLife Science Alliance
Volume2
Issue number4
Number of pages18
ISSN2575-1077
DOIs
Publication statusPublished - Aug 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • DE-NOVO MUTATIONS
  • NUCLEOTIDE EXCHANGE FACTOR
  • OF-FUNCTION MUTATIONS
  • INTELLECTUAL DISABILITY
  • POSTSYNAPTIC DENSITY
  • NEURAL INFORMATION
  • DNA METHYLATION
  • GENERATION
  • RECEPTORS
  • IQSEC2
  • 3111 Biomedicine

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