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Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Mendelian DisorderSevere Cerebral HypomyelinationNeurological DisorderGenetic DisorderGeneticsNeuroscienceNeurologyCentral Nervous SystemNeuropathologyMedicineDominant-negative MutationsNeurogeneticsDevelopmental Delay