Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant

Abstract Introduction: As with many genetic diseases, the diagnostic role of next-generation sequencing is invaluable for early-onset epileptic encephalopathies. SNARE proteins in synaptic vesicles (synaptobrevin-2) and synaptic plasma membrane (syntaxin-1, SNAP-25) are involved in synaptic exocytos...

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Veröffentlicht in:Molecular syndromology 2024-10, Vol.15 (5), p.437-442
Hauptverfasser: Orak, Sibğatullah Ali, Gün Bilgiç, Dilek, Çerçi Kubur, Çisil, Atasever, Aslı Kübra, Yılmaz, Celil, Polat, Muzaffer
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Sprache:eng
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Zusammenfassung:Abstract Introduction: As with many genetic diseases, the diagnostic role of next-generation sequencing is invaluable for early-onset epileptic encephalopathies. SNARE proteins in synaptic vesicles (synaptobrevin-2) and synaptic plasma membrane (syntaxin-1, SNAP-25) are involved in synaptic exocytosis and recycling. Patient Presentation: Here, we report a patient that started in early childhood with seizures resistant to antiepileptic drugs, then developed epileptic encephalopathy. Discussion/Conclusion: The NAPB gene encodes proteins in the SNARE complex. A previously unidentified homozygous missense variant in the NAPB gene may have contributed significantly to the etiology of our patient with epileptic encephalopathy. We also summarize the clinical, radiological, laboratory, and genetic findings of previously published patients with NAPB variants. Established FactsVesicle exocytosis disorders in the synaptic space are one of the main pathologies of EEs.So far, only 3 variants of the NAPB gene have an association with epileptic encephalopathy.
ISSN:1661-8769
1661-8777
DOI:10.1159/000538741