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All Journal MNJ (Malang Neurology Journal) International Journal of Language Teaching and Education
Katerelos, Adamantios
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Education Languange, Linguistic, Communication & Media Neuroscience Social Sciences

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A NOVEL VARIANT OF HUWE1 GENE IN A FEMALE INFANT WITH SYNDROME PHENOTYPE AND DEVELOPMENTAL DELAY: A CASE REPORT Giannikopoulou, Iliana; Stogiannidou, Eleni; Oikonomou , Asimakis; Markou , Paraskevi; Karasmani , Paraskevi; Katerelos, Adamantios
MNJ (Malang Neurology Journal) Vol. 11 No. 2 (2025): July
Publisher : PERDOSSI (Perhimpunan Dokter Spesialis Saraf Indonesia Cabang Malang) - Indonesian Neurological Association Branch of Malang cooperated with Neurology Residency Program, Faculty of Medicine Brawijaya University, Malang, Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21776/ub.mnj.2025.011.02.13

Abstract

This case report presents a rare and novel variant of HUWE1 gene in a female infant with a syndrome phenotype and significant neurodevelopmental deficits. The HUWE1 gene is known to play a crucial role in the development and function of the nervous system. Mutations in this gene have been associated with Turner-type syndromic intellectual developmental disorder (MRXST), a disorder with variable phenotype. This gene is located in X chromosome, and therefore males are affected. Although there are a few cases of female carriers with abnormal findings, or with milder cognitive abnormalities, there are also female patients with de novo mutations who express the full phenotype. Here we describe the clinical and genetic features of a female infant, born to healthy parents and at birth was noted to have abnormal facial features, hypotonia and brachydactyly. At her second hospitalization it was sent genetic testing of her, which revealed a variant in HUWE1 gene, that had never been described in literature.
The Role of Neurolinguistics in Teaching Greek as a Second Language:: A Comprehensive Review Moumouri, Amalia; Katerelos, Adamantios
International Journal of Language Teaching and Education Vol. 9 No. 2 (2025): International Journal of Language Teaching and Education - In Progress...
Publisher : Universitas Jambi, Magister Program of English Education Department

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.22437/ijolte.v9i2.48343

Abstract

Neurolinguistics provides crucial insights into the cognitive and neural mechanisms underlying second language acquisition, offering fertile ground for improving the teaching of Greek as a second language (L2). This article presents a comprehensive review of research at the intersection of neurolinguistics and Greek language pedagogy. It discusses findings on cognitive processing, phonological and grammatical challenges, multisensory learning, affective dimensions such as motivation and anxiety reduction, and dynamic assessment methods. Special attention is given to technological innovations, pragmatic competence, and cultural immersion. The review also critically evaluates current research gaps, emphasizing the need for empirical studies specifically on Greek L2 acquisition. By integrating cognitive science, pedagogy, and sociocultural approaches, the article proposes evidence-based directions for teaching methodologies that foster both linguistic competence and cultural integration
Co-Authors Giannikopoulou, Iliana Karasmani , Paraskevi Markou , Paraskevi Moumouri, Amalia Oikonomou , Asimakis Stogiannidou, Eleni