Monocarboxylate transporter-1 deficiency results in severe metabolic acidosis with ketogenic diet in early onset absence epilepsy: Case report

Seizure. 2020 Jan:74:31-32. doi: 10.1016/j.seizure.2019.11.008. Epub 2019 Nov 28.

¹ Faculty of Medicine, McGill University, Montreal, PQ, Canada.
² Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada.
³ Department of Clinical Nutrition, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada.
⁴ Department of Pediatrics, Division of Neurology, Montreal Children's Hospital, McGill University Health Centre, Montreal, PQ, Canada; Department of Neurology & Neurosurgery, McGill University Health Centre, Montreal, PQ, Canada; Research Institute of the McGill University Health Centre, Montreal, PQ, Canada. Electronic address: kenneth.myers@mcgill.ca.

No abstract available

Keywords: Early onset absence epilepsy; Ketogenic diet; Metabolic acidosis; Monocarboxylate transporter 1 deficiency; SLC16A1.

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