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A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.

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Title: A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.
Authors: Badv, Reza Shervin1 (AUTHOR), Shariatmadari, Fakhreddin1,2 (AUTHOR), Bayat, Shiva3 (AUTHOR), Memarian, Sara1 (AUTHOR), Esteghamat Hanzae, Samaneh1 (AUTHOR), Yousefimanesh, Hossein1 (AUTHOR) Yousefimaneshhossein@gmail.com
Source: Egyptian Journal of Medical Human Genetics. 11/4/2024, Vol. 25 Issue 1, p1-4. 4p.
Database: Academic Search Ultimate
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Header DbId: asn
DbLabel: Academic Search Ultimate
An: 180655103
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PubTypeId: academicJournal
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  Data: A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.
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  Data: <searchLink fieldCode="AR" term="%22Badv%2C+Reza+Shervin%22">Badv, Reza Shervin</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shariatmadari%2C+Fakhreddin%22">Shariatmadari, Fakhreddin</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bayat%2C+Shiva%22">Bayat, Shiva</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Memarian%2C+Sara%22">Memarian, Sara</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Esteghamat+Hanzae%2C+Samaneh%22">Esteghamat Hanzae, Samaneh</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yousefimanesh%2C+Hossein%22">Yousefimanesh, Hossein</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Yousefimaneshhossein@gmail.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Egyptian+Journal+of+Medical+Human+Genetics%22">Egyptian Journal of Medical Human Genetics</searchLink>. 11/4/2024, Vol. 25 Issue 1, p1-4. 4p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=180655103
RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1186/s43042-024-00603-5
    Languages:
      – Code: eng
        Text: English
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      Pagination:
        PageCount: 4
        StartPage: 1
    Titles:
      – TitleFull: A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy.
        Type: main
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          Name:
            NameFull: Badv, Reza Shervin
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            NameFull: Shariatmadari, Fakhreddin
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            NameFull: Bayat, Shiva
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            NameFull: Memarian, Sara
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            NameFull: Esteghamat Hanzae, Samaneh
      – PersonEntity:
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            NameFull: Yousefimanesh, Hossein
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          Dates:
            – D: 04
              M: 11
              Text: 11/4/2024
              Type: published
              Y: 2024
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              Value: 11108630
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              Value: 25
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          Titles:
            – TitleFull: Egyptian Journal of Medical Human Genetics
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