{"id":1527,"date":"2024-06-17T16:50:00","date_gmt":"2024-06-17T13:50:00","guid":{"rendered":"https:\/\/pediatria-spisanie.eu\/2024\/06\/17\/riaduk-sluchai-na-epileptichna-encefalopatia-pri-deca-pack2-sindrom\/"},"modified":"2025-05-16T15:21:12","modified_gmt":"2025-05-16T12:21:12","slug":"riaduk-sluchai-na-epileptichna-encefalopatia-pri-deca-pack2-sindrom","status":"publish","type":"post","link":"https:\/\/pediatria-spisanie.eu\/en\/2024\/06\/17\/riaduk-sluchai-na-epileptichna-encefalopatia-pri-deca-pack2-sindrom\/","title":{"rendered":"A Rare Case of Infantile-Onset Epileptic Encephalopathy in PACS2 Syndrome"},"content":{"rendered":"\n\n\t\t
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Z. Chuperkova, V. Iotova, I. Litvinenko, M. Stoyanova <\/h3>\n<\/p>\n\t\t<\/div>\n\t<\/div>\n\t\n\t\n
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Abstract<\/h2>\n\n\n\n

Developmental and Epileptic Encephalopathies (DEEs) include severe neonatal and childhood epilepsies characterized by delay or regression in neuropsychiatric development with recurrent seizures and frequent interictal epileptiform discharges. Their genetic causes can serve as a marker of their severity and evolution. Mutations in the gene encoding Phosphofurin acidic cluster sorting protein 2 (PACS2) are among the extremely rare DEEs. The PACS2 syndrome phenotype is characterized by facial dysmorphism, muscle hypotonia, global developmental delay, intellectual deficit with or without autistic features, and cerebellar dysgenesis with abnormalities of cerebellar folia. We present a clinical case of a 13-year-old girl affected by the most frequent mutation in the PACS2 gene, c.625G>A (p.Glu209Lys), debuting with epileptic encephalopathy in infancy.<\/p>\n\n\n\n

Key words: <\/em><\/strong>epileptic encephalopathy, rare diseases, whole exome sequencing, PACS2 syndrome<\/em><\/p>\n\n\n

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    <\/div>\n\n\n\n

    Address for correspondence:<\/em><\/strong><\/strong><\/p>\n\n\n\n

    Second Pediatric Clinic, UMHAT St. Marina<\/em><\/p>\n\n\n\n

    1, \u201cHristo Smirnenski\u201d<\/em>, Blvd.<\/em><\/p>\n\n\n\n

    9010, Varna<\/em><\/p>\n\n\n\n

    Bulgaria<\/em><\/p>\n\n\n\n

    e-mail: dr_chuperkova@mail.bg<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

    Z. Chuperkova, V. Iotova, I. Litvinenko, M. Stoyanova<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_pediatria_doi":"","footnotes":""},"categories":[1301,1336],"tags":[1611,1623,1626,1612,1613,1614,1625,1615,1624,1616,1617,1618,1619,1620,1621,1622],"class_list":["post-1527","post","type-post","status-publish","format-standard","hentry","category-articles","category-issue-2-2024","tag-epileptic-encephalopathy-en","tag-i-litvinenko-2","tag-m-stoyanova-2","tag-pacs2-syndrome-en","tag-pacs2-sindrom-en","tag-rare-diseases-en","tag-v-iotova","tag-whole-exome-sequencing-en","tag-z-chuperkova","tag-violeta-jotova-en","tag-epileptichna-enczefalopatiya-en","tag-zhivka-chuperkova-en","tag-ivan-litvinenko-en","tag-redki-zabolyavaniya-en","tag-ryadak-sluchaj-na-epileptichna-enczefalopatiya-pri-pacs2-sindrom-s-debyut-v-karmacheska-vazrast-en","tag-czyaloekzomen-sekvenaczionen-analiz-en"],"_links":{"self":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1527","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/comments?post=1527"}],"version-history":[{"count":2,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1527\/revisions"}],"predecessor-version":[{"id":1530,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/posts\/1527\/revisions\/1530"}],"wp:attachment":[{"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/media?parent=1527"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/categories?post=1527"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/pediatria-spisanie.eu\/en\/wp-json\/wp\/v2\/tags?post=1527"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}