Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches

by Suvasini Sharma, Asuri N. Prasad
Published 2017-07-01

Fever, seizures and encephalopathy: From bush fires to firestorms

by Prabhjot Kaur, Suvasini Sharma, Ramesh Konanki, Asuri N Prasad
Published 2022-01-01

A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report

by Montaha Almudhry, Montaha Almudhry, Asuri N. Prasad, Asuri N. Prasad, Asuri N. Prasad, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Mary E. Jenkins, Chitra Prasad, Chitra Prasad
Published 2023-09-01

Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report

by Montaha Almudhry, Montaha Almudhry, Chitra Prasad, Chitra Prasad, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Asuri N. Prasad, Asuri N. Prasad
Published 2024-02-01

Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

by Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad
Published 2022-01-01

The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene

by E. Keilland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad
Published 2016-03-01

Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T>C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie a...

by E. Kelland, C.A. Rupar, Asuri N. Prasad, K.Y. Tay, A. Downie, C. Prasad
Published 2016-09-01

Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism

by Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N. Prasad, Akshya Vasudev, Andrew Mantulak, Beth K. Potter, Chitra Prasad
Published 2020-12-01

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

by Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews
Published 2019-11-01

De novo STXBP1 Mutations in Two Patients With Developmental Delay With or Without Epileptic Seizures

by Ping Yang, Ping Yang, Robert Broadbent, Robert Broadbent, Chitra Prasad, Simon Levin, Sharan Goobie, Joan H. Knoll, Joan H. Knoll, Asuri N. Prasad
Published 2021-12-01

A live-online mindfulness-based intervention for children living with epilepsy and their families: protocol for a randomized controlled trial of Making Mindfulness Matter©

by Klajdi Puka, Karen Bax, Andrea Andrade, Margo Devries-Rizzo, Hema Gangam, Simon Levin, Maryam N. Nouri, Asuri N. Prasad, Mary Secco, Guangyong Zou, Kathy N. Speechley
Published 2020-11-01

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

by Julia Macintosh, Julia Macintosh, Stefanie Perrier, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Luan T. Tran, Kether Guerrero, Kether Guerrero, Chitra Prasad, Chitra Prasad, Chitra Prasad, Asuri N. Prasad, Asuri N. Prasad, Tomi Pastinen, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Benoit Coulombe, Benoit Coulombe, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard
Published 2023-10-01