Preliminary Study About A Significant and Treatable Cause of Epileptic Encephalopathy: GRIN2D Mutation

Gültekin KUTLUK; Nadide Cemre RANDA

doi:https://doi.org/10.30565/medalanya.891938

Makale detayları

Preliminary Study About A Significant and Treatable Cause of Epileptic Encephalopathy: GRIN2D Mutation

Yazarlar:

Gültekin KUTLUK | Nadide Cemre RANDA

Yayıncı:

Alanya Alaaddin Keykubat University

Ana Başlıklar:

Hastalıklar

Dergi:

Acta Medica Alanya 2021 Vol.5 Issue 2, pp.109-117

Belge Tipi:

Makale

Yayın Tarihi:

8/2021

Belge Dili:

İngilizce

Document ID (Org No.):

2000439951

Sıklık:

Üç Yıllık

eISSN:

2587-0319

DOI:

https://doi.org/10.30565/medalanya.891938

Özet:

 


Aim: The GRIN2D gene mutation causes severe forms of epileptic encephalopathy. NMDAR antagonists and magnesium sulfate could be useful as adjunctive therapy to control seizures in individuals with GRIN2D encephalopathy. The aim of this study was to describe the clinical features and treatment options of GRIN2D encephalopathy.

Methods: Patients followed up with epileptic encephalopathy in our pediatric neurology clinic were investigated for genetic etiology using next-generation sequencing (NGS)-based tests. Patients with the GRIN2D mutation were overviewed for clinical and genetic characteristics.

Results: A total of 53 patients were screened and GRIN2D mutations (c.3684_3685insGA, c.3248_3254del, c.1579G>T, c.47_49del) were detected in four patients. Occipital epileptic activity was frequently detected among our patients. Three patients received memantine treatment for intractable epilepsy and remained seizure-free.

Conclusion: GRIN2D encephalopathy is a treatable epileptic encephalopathy, and its recognition is important in terms of outcomes. Occipital epilepsy is generally benign, but developmental and epileptic encephalopathies such as GRIN2D encephalopathy should be considered in the presence of concomitant developmental delay.

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Makale detayları

Preliminary Study About A Significant and Treatable Cause of Epileptic Encephalopathy: GRIN2D Mutation

Yazarlar: Gültekin KUTLUK | Nadide Cemre RANDA

Yayıncı: Alanya Alaaddin Keykubat University

Ana Başlıklar: Hastalıklar

Dergi: Acta Medica Alanya 2021 Vol.5 Issue 2, pp.109-117

Belge Tipi: Makale

Yayın Tarihi: 8/2021

Belge Dili: İngilizce

Document ID (Org No.): 2000439951

Sıklık: Üç Yıllık

eISSN: 2587-0319

DOI: https://doi.org/10.30565/medalanya.891938

Sayı

Yazarlar:

Gültekin KUTLUK | Nadide Cemre RANDA

Yayıncı:

Alanya Alaaddin Keykubat University

Ana Başlıklar:

Hastalıklar

Dergi:

Acta Medica Alanya 2021 Vol.5 Issue 2, pp.109-117

Belge Tipi:

Makale

Yayın Tarihi:

8/2021

Belge Dili:

İngilizce

Document ID (Org No.):

2000439951

Sıklık:

Üç Yıllık

eISSN:

2587-0319

DOI:

https://doi.org/10.30565/medalanya.891938