Latest Advances

  • Condition: Intractable Epilepsy
  • Journal: Brain & development
  • Treatment Used: Ketogenic Diet
  • Number of Patients: 2
  • Published —
In this study, researchers evaluated the outcomes of using the ketogenic diet for the treatment of intractable epilepsy in twins with congenital metabolic disease ALG3-CDG.
  • Condition: Non-Lethal Raine Syndrome (RS) During Childhood
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Phosphate Salts and Alfacalcido
  • Number of Patients: 7
  • Published —
This case series describes non-lethal Raine syndrome (genetic disorder) during childhood.
  • Condition: Sleep Disturbances in Angelman Syndrome
  • Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
  • Treatment Used: Mirtazapine
  • Number of Patients: 8
  • Published —
This study tested the safety and efficacy of using mirtazapine to treat sleep disturbances in patients with Angelman syndrome.
  • Condition: Microcephaly in Children who are HIV-Exposed but Uninfected
  • Journal: The lancet. HIV
  • Treatment Used: Maternal Antiretroviral Use
  • Number of Patients: 3055
  • Published —
This study evaluated whether individual in utero antiretroviral exposures were associated with increased risk of microcephaly (smaller than normal head) based on long-term follow-up of infants and children who are HIV-exposed but uninfected.
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