RGD Reference Report - Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly. - Rat Genome Database

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Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly.

Authors: Arai, A  Saito, T  Hanai, S  Sukigara, S  Nabatame, S  Otsuki, T  Nakagawa, E  Takahashi, A  Kaneko, Y  Kaido, T  Saito, Y  Sugai, K  Sasaki, M  Goto, Y  Itoh, M 
Citation: Arai A, etal., Brain Res. 2012 Aug 27;1470:89-97. doi: 10.1016/j.brainres.2012.06.009. Epub 2012 Jul 1.
RGD ID: 11560525
Pubmed: PMID:22759905   (View Abstract at PubMed)
DOI: DOI:10.1016/j.brainres.2012.06.009   (Journal Full-text)

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are major causes of intractable epilepsy in children. The probable pathogenesis of FCD and HMG is the abnormal migration and differentiation of neurons. The aim of the present study was to clarify the abnormal cytoarchitecture, based on neuronal immaturation. Tissue samples were obtained from 16 FCD and seven HME patients, aged between 2 months and 12 years, who had been diagnosed as typical FCD and HME, following surgical treatment for intractable epilepsy. Paraffin-embedded sections were stained with the antibodies of three layer-markers that are usually present only during the fetal period, namely SATB2 (expressed in the upper layer of the normal fetal neocortex), FOXP1 (expressed in the 5th layer), and TBR1 (expressed in the 6th layer). In FCD, SATB2-positive (+) cells located in the middle and deep regions of FCD Ia and Ib, but only in the superficial region of FCD IIa and IIb. FOXP1+ cells diffusely located in the neocortex, especially the upper layer of FCD IIa and IIb. TBR1+ cells mainly located in the middle and deep regions, and also white matter. In FCD IIb, TBR1+ cells were in the superficial region. In HME, SATB2+ and FOXP1+ cells were found diffusely. TBR1+ cells were in the middle and deep regions. On the basis of continued expression of fetal cortical layer-specific markers in FCD and HME brains, the abnormal neocortical formation in both is likely to be the result of disrupted neuronal migration and dysmaturation. The expression pattern is different between FCD and HME.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FOXP1Humancomplex cortical dysplasia with other brain malformations  IEP protein:altered expression:neocortex (human)RGD 
Foxp1Ratcomplex cortical dysplasia with other brain malformations  ISOFOXP1 (Homo sapiens)protein:altered expression:neocortex (human)RGD 
Foxp1Mousecomplex cortical dysplasia with other brain malformations  ISOFOXP1 (Homo sapiens)protein:altered expression:neocortex (human)RGD 
FOXP1HumanHemimegalencephaly  IEP protein:altered expression:neocortex (human)RGD 
Foxp1RatHemimegalencephaly  ISOFOXP1 (Homo sapiens)protein:altered expression:neocortex (human)RGD 
Foxp1MouseHemimegalencephaly  ISOFOXP1 (Homo sapiens)protein:altered expression:neocortex (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Foxp1  (forkhead box P1)

Genes (Mus musculus)
Foxp1  (forkhead box P1)

Genes (Homo sapiens)
FOXP1  (forkhead box P1)


Additional Information