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Case Reports

Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy

ORCID Icon, , &
Pages 950-952 | Received 28 May 2020, Accepted 13 Nov 2020, Published online: 09 Dec 2020

References

  • Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8–26.
  • Kim ST, Brinjikji W, Lanzino G, et al. Neurovascular manifestations of connective-tissue diseases: a review. Interv Neuroradiol. 2016;22(6):624–637.
  • Beighton P, De Paepe A, Hall JG, et al. Molecular nosology of heritable disorders of connective tissue. Am J Med Genet. 1992;42(4):431–448.
  • Li T, Cheng M, Wang J, et al. De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy. Genes Brain Behav. 2018;17(8):e12492.
  • Kelley SA, Kossoff EH. How effective is the ketogenic diet for electrical status epilepticus of sleep? Epilepsy Res. 2016;127:339–343.
  • Symoens S, Syx D, Malfait F, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012;33(10):1485–1493.
  • Jacome DE. Epilepsy in Ehlers-Danlos syndrome. Epilepsia. 1999;40(4):467–473.
  • Veggiotti P, Pera MC, Teutonico F, et al. Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update. Epileptic Disord. 2012;14(1):1–11.
  • Reyes G, Flesler S, Armeno M, et al. Ketogenic diet in patients with epileptic encephalopathy with electrical status epilepticus during slow sleep. Epilepsy Res. 2015;113:126–131.
  • Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954–962.

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