Publication | Open Access

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Autonomic DysfunctionGenetic DisorderGeneticsPathogenesisPitt-hopkins SyndromePathologyDisease Gene IdentificationNeuropathologyMedicineHelix-loop-helix Transcription FactorNeurogenetics