RGD Reference Report - Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus. - Rat Genome Database

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Epilepsy in Dcx knockout mice associated with discrete lamination defects and enhanced excitability in the hippocampus.

Authors: Nosten-Bertrand, Marika  Kappeler, Caroline  Dinocourt, Céline  Denis, Cécile  Germain, Johanne  Phan Dinh Tuy, Françoise  Verstraeten, Soraya  Alvarez, Chantal  Métin, Christine  Chelly, Jamel  Giros, Bruno  Miles, Richard  Depaulis, Antoine  Francis, Fiona 
Citation: Nosten-Bertrand M, etal., PLoS One. 2008 Jun 25;3(6):e2473. doi: 10.1371/journal.pone.0002473.
RGD ID: 12904723
Pubmed: PMID:18575605   (View Abstract at PubMed)
PMCID: PMC2429962   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0002473   (Journal Full-text)

Patients with Doublecortin (DCX) mutations have severe cortical malformations associated with mental retardation and epilepsy. Dcx knockout (KO) mice show no major isocortical abnormalities, but have discrete hippocampal defects. We questioned the functional consequences of these defects and report here that Dcx KO mice are hyperactive and exhibit spontaneous convulsive seizures. Changes in neuropeptide Y and calbindin expression, consistent with seizure occurrence, were detected in a large proportion of KO animals, and convulsants, including kainate and pentylenetetrazole, also induced seizures more readily in KO mice. We show that the dysplastic CA3 region in KO hippocampal slices generates sharp wave-like activities and possesses a lower threshold for epileptiform events. Video-EEG monitoring also demonstrated that spontaneous seizures were initiated in the hippocampus. Similarly, seizures in human patients mutated for DCX can show a primary involvement of the temporal lobe. In conclusion, seizures in Dcx KO mice are likely to be due to abnormal synaptic transmission involving heterotopic cells in the hippocampus and these mice may therefore provide a useful model to further study how lamination defects underlie the genesis of epileptiform activities.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
visual epilepsy  ISODcx (Mus musculus)12904723; 12904723 RGD 
visual epilepsy  IMP 12904723 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Dcx  (doublecortin)

Genes (Mus musculus)
Dcx  (doublecortin)

Genes (Homo sapiens)
DCX  (doublecortin)


Additional Information