Cargando…
Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country
Monogenic epilepsies are a significant etiology of pediatric epilepsy. These are now more easily identified due to advances in genetic testing. However, the utility of genetic testing in low to middle-income countries (LMICs) has not been fully explored. A retrospective review was carried out in Kar...
Autores principales: | Akbar, Fizza, Saleh, Raisa, Kirmani, Salman, Chand, Prem, Mukhtiar, Khairunnisa, Jan, Farida, Kumar, Raman, Ibrahim, Shahnaz |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719086/ https://www.ncbi.nlm.nih.gov/pubmed/36471706 http://dx.doi.org/10.1016/j.ebr.2022.100575 |
Ejemplares similares
-
Experience in prenatal genetic testing and reproductive decision-making for monogenic disorders from a single tertiary care genetics clinic in a low-middle income country
por: Hanif, Amna, et al.
Publicado: (2023) -
Impact of COVID-19 pandemic on paediatric services at a referral centre in Pakistan: lessons from a low-income and middle-income country setting
por: Kirmani, Salman, et al.
Publicado: (2021) -
Packages of Care for Epilepsy in Low- and Middle-Income Countries
por: Mbuba, Caroline K., et al.
Publicado: (2009) -
Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)
por: Qarnain, Zul, et al.
Publicado: (2022) -
Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
por: Mukhtiar, Khairunnisa, et al.
Publicado: (2023)