Challenges in seizure control in ATP6V0C deficiency: A longitudinal case report

Epileptic Disord. 2023 Oct;25(5):783-786. doi: 10.1002/epd2.20097. Epub 2023 Jul 12.

Arthavan Selvanathan¹, Rebecca Macintosh^{1

2}, Alexandra Johnson^{2

3}, Vanessa Sarkozy^{2

4}, Kristen Neville⁵, Rani Sachdev^{1

2}

¹ Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
² School of Women's and Children's Health, UNSW Medicine and Health, University of New South Wales, Sydney, New South Wales, Australia.
³ Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
⁴ Tumbatin Developmental Clinic, Sydney Children's Hospital, Sydney, New South Wales, Australia.
⁵ Department of Endocrinology, Sydney Children's Hospital, Sydney, New South Wales, Australia.

No abstract available

Keywords: ATP6V0C deficiency; Lennox-Gastaut syndrome; developmental epileptic encephalopathy; pubertal suppression; ultra-rare disease.

Publication types