Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder

Marcella Zollino, Daniela Pia Rosaria Chieffo, Giuseppe Marangi, Domenica Immacolata Battaglia, Daniela Orteschi, Concetta Cafiero, Stefania Ricciardi, Ilaria Contaldo, Domiziana Ranalli, Celeste Acquafondata, Marina Murdolo, Alessia Asaro, Mariken Ruiter, Rolph Pfundt, Katharina Steindl

Risultato della ricerca: Contributo in rivistaArticolo in rivista

16 Citazioni (Scopus)

Abstract

Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.
Lingua originaleEnglish
pagine (da-a)849-857
Numero di pagine9
RivistaEpilepsia
Volume55
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Adolescent
  • Calcium-Binding Proteins
  • Candidate genes
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 4
  • Comparative Genomic Hybridization
  • Female
  • Gene Deletion
  • Humans
  • Male
  • Membrane Proteins
  • Oligonucleotide Array Sequence Analysis
  • Real-Time Polymerase Chain Reaction
  • Seizures
  • WHS pathogenesis
  • Wolf-Hirschhorn Syndrome

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