Article
Hereditary Hyperekplexia in Saudi Arabia.
Pediatric neurology - 1 Sept 2022
Aldhilan Amal, Alhakeem Afnan, Al Hajjaj Sumayah, Abukhalid Musaad, Aldhalaan Hisham, Salah Ehab, Saeed Muhammed, Tabassum Sadia, El Khashab Heba Y, Aljabri Mohammed, Ali El-Sayed, Alwadei Ali, Hundallah Khalid, Alghamdi Abdulaziz, Hakami Wejdan, AlShafi Shatha, Alkuraya Fowzan S, Alanazy Naif, Seidahmed Mohammed Zain, Alfadhel Majid, Tabarki Brahim
Abstract excerpt
BACKGROUND: Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity. METHODS: We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a standard questionnaire that was sent to nine...
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