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Fumaric Aciduria: A Rare Cause of Refractory Epilepsy

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Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 4 ¦ July-August 2022 738 associated with an early‐infantile neurodegenerative syndrome. Eur J Hum Genet 2021;29:271‐9. 4. Demir K,… Click to show full abstract

Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 4 ¦ July-August 2022 738 associated with an early‐infantile neurodegenerative syndrome. Eur J Hum Genet 2021;29:271‐9. 4. Demir K, Özen S, Konakçı E, Aydın M, Darendeliler F. A comprehensive online calculator for pediatric endocrinologists: ÇEDD Çözüm/TPEDS metrics. J Clin Res Pediatr Endocrinol 2017;9:182‐4. 5. Kaur P, Kadavigere R, Girisha KM, Shukla A. Recurrent bi‐allelic splicing variant c. 454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement. Brain 2020;143:e29. 6. Majethia P, Do Rosario MC, Kaur P, Karanvir, Shankar R, Sharma S, et al. Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy. Ann Hum Genet 2021. doi: 10.1111/ahg. 12452. 7. Mastrangelo M. Clinical approach to neurodegenerative disorders in childhood: An updated overview. Acta Neurol Belg 2019;119:511‐21. 8. Lee HF, Chi CS, Tsai CR. Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders. Dev Med Child Neurol 2021;63:934‐8. 9. Rexach J, Lee H, Martinez‐Agosto JA, Németh AH, Fogel BL. Clinical application of next‐generation sequencing to the practice of neurology. Lancet Neurol 2019;18:492‐503. 10. Sun H, Shen XR, Fang ZB, Jiang ZZ, Wei XJ, Wang ZY, et al. Next‐generation sequencing technologies and neurogenetic diseases. Life (Basel) 2021;11:361.

Keywords: rare cause; cause refractory; neurology; aciduria rare; fumaric aciduria; epilepsy

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2022

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