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Add Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

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Add Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

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Add SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

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Author/Creator
  • Raymond, F. Lucy (2)
  • Smith, Raffaella (2)
  • Stratton, Michael R. (2)
  • Al Raisi, Zahyia (1)
  • Arai, Amy C. (1)
  • Bayly, Marta A. (1)
  • Berkovic, Samuel F. (1)
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  • AMPA (1)
  • Angelman syndrome (1)
  • DNA (1)
  • GRIA3 (1)
  • PCDH19 mutations (1)
  • X-linked mental retardation (XLMR) (1)
  • cognitive impairment (1)
  • epilepsy (1)
  • females (1)
  • heteromeric receptors (1)

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