Article

Regulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interface

2026-02-18

Abstract excerpt

<h4>ABSTRACT</h4> De novo mutations in synaptotagmin-1 (syt1) cause a rare neurodevelopmental disorder, manifesting in global developmental delay, ophthalmic abnormalities, infantile hypotonia, facial dysmorphisms, absent speech, EEG abnormalities, and hyperkinetic movements, ranging from moderate to severe. Here, we evaluate eleven patient-relevant mutations spanning the Ca 2+ binding domains of syt1—C2A and -C...

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Literature Corpus work: 5794055b-9652-50f9-b253-2c07dd7be851
DOI: 10.64898/2026.02.17.706274

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