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Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari, Abdulaziz; Guzmán-Vega, Francisco J; Meyer, Brian F; Arold, Stefan T.
Afiliación
  • Alsemari A; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address: alsemari@kfshrc.edu.sa.
  • Guzmán-Vega FJ; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Meyer BF; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Centre (CBRC), Thuwal, Saudi Arab
  • Arold ST; Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Pediatr Neurol ; 151: 68-72, 2024 Feb.
Article en En | MEDLINE | ID: mdl-38113697
ABSTRACT

BACKGROUND:

Early infantile epileptic encephalopathy 25 (EIEE25) is a distinct type of neonatal epileptic encephalopathy caused by autosomal recessive mutations in the SLC13A5 gene. SLC13A5 encodes a transmembrane sodium/citrate cotransporter required for regulating citrate entry into cells.

METHODS:

Four families with recessively inherited epileptic encephalopathy were sequenced by clinically accredited laboratories using commercially available epilepsy gene panels. Patients were examined by a neurologist and were clinically diagnosed with infantile epileptic encephalopathy.

RESULTS:

We present four families with global developmental delay, intellectual disability, and defective tooth development with four novel homozygous mutations in SLC13A5. The neurological examination showed spastic quadriplegia with increased deep tendon reflexes. Brain magnetic resonance imaging showed nonspecific signal abnormality of the bilateral hemispheric white matter. Despite similar clinical features, the conditions were based on different molecular mechanisms acting on SLC13A5 (abnormal splicing, large-scale deletions, and tandem-residue insertion).

CONCLUSIONS:

Our results extend the landscape of autosomal recessive inherited homozygous mutations in SLC13A5 that cause a distinctive syndrome of severe neonatal epileptic encephalopathy. Our observations confirm the homogeneity of epileptic encephalopathy and dental abnormalities as a distinct clinical marker for EIEE25 despite the heterogeneous functional and mutational background.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Encefalopatías / Simportadores / Epilepsia Límite: Humans / Newborn Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Encefalopatías / Simportadores / Epilepsia Límite: Humans / Newborn Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos