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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Epileptic EncephalopathyNeurophysiologyGenetic DisorderGeneticsGain-of-function MutationsNeuroscienceMolecular NeurobiologyDisease Gene IdentificationMedicineSynaptic SignalingPotassium HomeostasisSocial SciencesNeurogenetics