CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet

نویسندگان

  • Suvasini Sharma
  • Shaiphali Goel
  • Puneet Jain
  • Carla Marini
  • Davide Mei
چکیده

1. Yang Y, Wu J, Liu H, Chen X, Wang Y, Zhao M, et al. Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next‐generation sequencing. Genomics 2013;102:169‐73. 2. Aynaci FM, Cakir E, Aynaci O. A case of I‐cell disease (mucolipidosis II) presenting with craniosynostosis. Childs Nerv Syst 2002;18:707‐11. 3. Donald F, Farrell. Mucolipidosis II α/β and III α/β: Phenotypic correlations. Biol Biomed Rep 2012;2:328‐41. 4. Cury GK, Matte U, Artigalás O, Alegra T, Velho RV, Sperb F, et al. Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene. Gene 2013;524:59‐64. How to cite this article: Gowda VK, Raghavan VV, Bhat M, Benakappa A. Mucolipidosis type II secondary to GNPTAB gene deletion from India. J Pediatr Neurosci 2017;12:115-6.

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عنوان ژورنال:

دوره 12  شماره 

صفحات  -

تاریخ انتشار 2017