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Unraveling Neuroimaging Insights in Developmental Epileptic Encephalopathy Type 25: A Comprehensive Review of Reported Cases and A Novel Slc13a5 Variant Publisher Pubmed



Mohammadi MF1 ; Tehrani Fateh S2 ; Ganji M3 ; Mohammadi P4, 6 ; Bahrami T5 ; Ashrafi MR6 ; Hosseinpour S6, 7 ; Heidari M6 ; Garshasbi M4 ; Tavasoli AR6, 8
Authors
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Authors Affiliations
  1. 1. Department of Cell and Molecular Sciences, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran
  2. 2. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Dena genetics laboratory, Tehran, Iran
  4. 4. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
  5. 5. Liver and Digestive Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran
  6. 6. Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Myelin Disorders Clinic, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Department of Pediatric Neurology, Vali-E-Asr Hospital, Tehran University of medical sciences, Tehran, Iran
  8. 8. Neurology Division, Barrow Neurological Institute, Phoenix Children’s Hospital, Phoenix, AZ, United States

Source: Acta Neurologica Belgica Published:2024


Abstract

Developmental and epileptic encephalopathy type 25 with amelogenesis imperfecta (DEE25) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous disease-causing variants in the SLC13A5. These variants can disrupt energy production and delay brain development, leading to DEE25. Key symptoms include refractory seizures, often manifesting in neonates or infants, alongside global developmental delay, intellectual disability, progressive microcephaly, ataxia, spasticity, and speech difficulties. Dental anomalies related to amelogenesis imperfecta are common. Previous studies have typically reported normal or minimally altered early-life brain magnetic resonance imaging (MRI) findings in DEE25. However, our investigation identified a homozygous splice donor variant (NM_177550.5: c.1437 + 1G >T) in SLC13A5 through whole-exome sequencing in two affected siblings (P1 and P2). They displayed developmental delay, cerebral hypotonia, speech delay, recurrent seizures, mild but constant microcephaly, and motor impairments. Significantly, P1 exhibited novel findings on brain magnetic resonance imaging at age 5, including previously unreported extensive persistent hypomyelination. Meanwhile, P2 showed substantial loss of cerebral white matter in the frontoparietal region and delayed myelination at 18 months old. These discoveries broaden the DEE25 imaging spectrum and highlight the clinical heterogeneity even within siblings sharing the same variants. © The Author(s) under exclusive licence to Belgian Neurological Society 2024.