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Early-onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome Volume 23, numéro 5, October 2021

  • [1] Hunt D., Leventer R.J., Simons C., Taft R., Swoboda K.J., Gawne-Cain M. Whole exome sequencing in family trios reveals mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014;51:806-813. de novo
  • [2] Lalani S.R., Zhang J., Schaaf C.P., Brown C.W., Magoulas P., Chun-Hui Tsai A. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014;95:579-583.
  • [3] Lee B.H., Reijnders M.R.F., Abubakare O., Tuttle E., Lape B., Minks K.Q. Expanding the neurodevelopmental phenotype of PURA syndrome. Am J Med Genet A. 2018;176:56-67.
  • [4] Reijnders M.R.F., Janowski R., Alvi M., Self J.E., van Essen T.J., Vreeburg M. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J Med Genet. 2018;55:104-113.
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  • [8] Solazzi R., Fiorini E., Parrini E., Darra F., Dalla Bernardina B., Cantalupo G. Diaper changing-induced reflex seizures in CDKL5-related epilepsy. Epileptic Disord. 2018;20:428-433.
  • [9] Kanemoto K., Watanabe Y., Tsuji T., Fukami M., Kawasaki J. Rub epilepsy: a somatosensory evoked reflex epilepsy induced by prolonged cutaneous stimulation. J Neurol Neurosurg Psychiatry. 2001;70:541-543.
  • [10] Martinez O., Pacha M.S., Francesco M.L., Miquelini L.A., González F.S. Toothbrushing epilepsy: an SEEG study and surgical treatment. Epileptic Disord. 2020;22:482-488.
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