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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.

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Title: Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Authors: Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Christina Elhosary, P., Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.
Source: Epilepsia (Series 4). Aug2012, Vol. 53 Issue 8, pe146-e150. 5p.
Subjects: Deletion mutation, Phosphodiesterases, Infantile spasms, Childhood epilepsy, Etiology of diseases, Comparative genomic hybridization, Polymerase chain reaction
Abstract: Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We sought to identify a novel cause of MMPEI in a child with MMPEI whose healthy parents were consanguineous. We used array comparative genomic hybridization (CGH) to identify copy number variants genome-wide and long-range polymerase chain reaction to further delineate the breakpoints of a deletion found by CGH. The proband had an inherited homozygous deletion of chromosome 20p13, disrupting the promoter region and first three coding exons of the gene PLCB1. Additional MMPEI cases were screened for similar deletions or mutations in PLCB1 but did not harbor mutations. Our results suggest that loss of PLCβ1 function is one cause of MMPEI, consistent with prior studies in a Plcb1 knockout mouse model that develops early onset epilepsy. We provide novel insight into the molecular mechanisms underlying MMPEI and further implicate PLCB1 as a candidate gene for severe childhood epilepsies. This work highlights the importance of pursuing genetic etiologies for severe early onset epilepsy syndromes. [ABSTRACT FROM AUTHOR]
Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
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  Data: <searchLink fieldCode="AR" term="%22Poduri%2C+Annapurna%22">Poduri, Annapurna</searchLink><br /><searchLink fieldCode="AR" term="%22Chopra%2C+Sameer+S%2E%22">Chopra, Sameer S.</searchLink><br /><searchLink fieldCode="AR" term="%22Neilan%2C+Edward+G%2E%22">Neilan, Edward G.</searchLink><br /><searchLink fieldCode="AR" term="%22Christina+Elhosary%2C+P%2E%22">Christina Elhosary, P.</searchLink><br /><searchLink fieldCode="AR" term="%22Kurian%2C+Manju+A%2E%22">Kurian, Manju A.</searchLink><br /><searchLink fieldCode="AR" term="%22Meyer%2C+Esther%22">Meyer, Esther</searchLink><br /><searchLink fieldCode="AR" term="%22Barry%2C+Brenda+J%2E%22">Barry, Brenda J.</searchLink><br /><searchLink fieldCode="AR" term="%22Khwaja%2C+Omar+S%2E%22">Khwaja, Omar S.</searchLink><br /><searchLink fieldCode="AR" term="%22Salih%2C+Mustafa+A%2E+M%2E%22">Salih, Mustafa A. M.</searchLink><br /><searchLink fieldCode="AR" term="%22Stödberg%2C+Tommy%22">Stödberg, Tommy</searchLink><br /><searchLink fieldCode="AR" term="%22Scheffer%2C+Ingrid+E%2E%22">Scheffer, Ingrid E.</searchLink><br /><searchLink fieldCode="AR" term="%22Maher%2C+Eamonn+R%2E%22">Maher, Eamonn R.</searchLink><br /><searchLink fieldCode="AR" term="%22Sahin%2C+Mustafa%22">Sahin, Mustafa</searchLink><br /><searchLink fieldCode="AR" term="%22Wu%2C+Bai-Lin%22">Wu, Bai-Lin</searchLink><br /><searchLink fieldCode="AR" term="%22Berry%2C+Gerard+T%2E%22">Berry, Gerard T.</searchLink><br /><searchLink fieldCode="AR" term="%22Walsh%2C+Christopher+A%2E%22">Walsh, Christopher A.</searchLink><br /><searchLink fieldCode="AR" term="%22Picker%2C+Jonathan%22">Picker, Jonathan</searchLink><br /><searchLink fieldCode="AR" term="%22Kothare%2C+Sanjeev+V%2E%22">Kothare, Sanjeev V.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Epilepsia+%28Series+4%29%22">Epilepsia (Series 4)</searchLink>. Aug2012, Vol. 53 Issue 8, pe146-e150. 5p.
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  Data: <searchLink fieldCode="DE" term="%22Deletion+mutation%22">Deletion mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Phosphodiesterases%22">Phosphodiesterases</searchLink><br /><searchLink fieldCode="DE" term="%22Infantile+spasms%22">Infantile spasms</searchLink><br /><searchLink fieldCode="DE" term="%22Childhood+epilepsy%22">Childhood epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Etiology+of+diseases%22">Etiology of diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Comparative+genomic+hybridization%22">Comparative genomic hybridization</searchLink><br /><searchLink fieldCode="DE" term="%22Polymerase+chain+reaction%22">Polymerase chain reaction</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We sought to identify a novel cause of MMPEI in a child with MMPEI whose healthy parents were consanguineous. We used array comparative genomic hybridization (CGH) to identify copy number variants genome-wide and long-range polymerase chain reaction to further delineate the breakpoints of a deletion found by CGH. The proband had an inherited homozygous deletion of chromosome 20p13, disrupting the promoter region and first three coding exons of the gene PLCB1. Additional MMPEI cases were screened for similar deletions or mutations in PLCB1 but did not harbor mutations. Our results suggest that loss of PLCβ1 function is one cause of MMPEI, consistent with prior studies in a Plcb1 knockout mouse model that develops early onset epilepsy. We provide novel insight into the molecular mechanisms underlying MMPEI and further implicate PLCB1 as a candidate gene for severe childhood epilepsies. This work highlights the importance of pursuing genetic etiologies for severe early onset epilepsy syndromes. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=78384438
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        Value: 10.1111/j.1528-1167.2012.03538.x
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