Phenotypic assessment of Stxbp1 haploinsufficiency reveals neurological disabilities in serotoninergic system
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STXBP1 (Syntaxin-binding protein 1) is a presynaptic SNARE complex regulator essential for neurotransmitter release. De novo heterozygous mutations in Stxbp1 represent one of the most common genetic causes of early onset epileptic encephalopathies (STXBP1 rela... ...
