| 概要 |
X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features (EPILX2) is a neurologic disorder with a range of epileptic seizure types, a varying degree of intellectual disability, and developmental delay. Mutations in GABRA3, encoding alpha-subunit of GABAA receptor, have been reported.
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| 著者 |
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmuller J, Krause R, May P, Becker F, Balling R, Biskup S, Haas SA, Nurnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E |
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