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Frontiers in Pediatrics|June 27, 2025
Infantile epileptic spasm syndrome: predictors of short- and long-term outcomesMohammed A Al-Omari, Melissa Chavez-Castillo, Michael R Miller, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|August 4, 2020
Genetic Testing in Children with Epilepsy: Report of a Single-Center ExperienceSo Lee, Natalya Karp, Eugenio Zapata-Aldana, et al.
Molecular Genetics and Metabolism Reports|October 12, 2020
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolismPrashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, et al.
Frontiers in Neurology|October 4, 2023
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case reportMontaha Almudhry, Asuri N Prasad, C Anthony Rupar, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|November 7, 2014
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odysseyChitra Prasad, C Anthony Rupar, Craig Campbell, et al.
Molecular Genetics and Metabolism|February 5, 2013
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblingsChitra Prasad, Serge B Melançon, C Anthony Rupar, et al.
Brain : a Journal of Neurology|February 4, 2005
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohortChristopher B R Funk, Asuri N Prasad, Patrick Frosk, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|November 14, 2018
Development of Criteria for Epilepsy Genetic Testing in Ontario, CanadaPuneet Jain, Danielle Andrade, Elizabeth Donner, et al.
JIMD Reports|November 20, 2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinosesAbdulhakim Jilani, Diana Matviychuk, Susan Blaser, et al.
Journal of Medical Genetics|August 7, 2015
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostosesSali M K Farhan, Jian Wang, John F Robinson, et al.
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