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Atıf
33
Cilt
433-436
Sayfa
🔓
Açık Erişim
Özet
Autism spectrum disorder (ASD) is a disease characterized by interaction and communication deficiencies. Patients diagnosed with intellectual disability (ID) exhibit deficiencies in at least two behaviors associated with adaptation skills. The high level of association between neurodevelopmental diseases, especially ID, and ASD clearly reveals the presence of etiopathogenesis with an underlying multi-factorial and possibly a common genetic background. The SYNGAP1 gene has been associated with both ASD and non-syndromic ID. We report the case of a 13-year-old adolescent with SYNGAP1 gene mutation diagnosed with ASD, moderate ID, and epilepsy. The motor development of the patient, who had started walking at the age of 4, was delayed, and his language development was evidently inadequate since he still had no word. Stereotypical behaviors were observed with insufficient social interaction. As a result of the genetic analysis, the patient was determined to be heterozygous for a single nucleotide change (C>T) resulting in a false sense of mutation at position c.3134 in exon 15 of the SYNGAP1 gene. Thus, the present study aimed to contribute to the knowledge base on patients with rare SYNGAP1 mutation that plays a role in the etiological background of ASD, ID, and epilepsy comorbidity. To the best of our knowledge, this variant has not been reported in the scientific literature to date.
Web of Science Eşleşmesi Bulundu
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WoS Atıf
33
Cilt
Article
Belge Türü
Kaynak: DUSUNEN ADAM-JOURNAL OF PSYCHIATRY AND NEUROLOGICAL SCIENCES
· s. 433-436
Anahtar Kelimeler (WoS)
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Anahtar Kelimeler
WoS |
Bir kelimeye tıklayıp ilgili kaynaktaki yayınları görün.
Makale Bilgileri
Dergi
Dusunen Adam The Journal of Psychiatry and Neurological Sciences
ISSN
1018-8681
Yıl
2020
/ 11. ay
Cilt / Sayı
4
/ 33
Sayfalar
433 – 436
Makale Türü
Vaka Takdimi
Hakemlik
Hakemli
Endeks
ESCI
Yayın Dili
İngilizce
Kapsam
Uluslararası
Toplam Yazar
5 kişi
Erişim Türü
Basılı+Elektronik
Alan
Sağlık Bilimleri Temel Alanı
TIP
YÖKSİS Yazar Kaydı
Yazar Adı
TEZCAN MUSTAFA ESAD, ÇETİN FATİH HİLMİ, DUYMUŞ FAHRETTİN, Çora Tülin, TÜRKOĞLU SERHAT
YÖKSİS ID
5310135