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Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathies and epilepsy. Functional and expression… Click to show full abstract
Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathies and epilepsy. Functional and expression studies demonstrate impaired lysosomal homeostasis, defective neurite elongation and loss of excitatory inputs in cultured neurons.
Keywords:
mutations atp6v1a;
developmental encephalopathy;
novo mutations;
atp6v1a gene;
gene cause;
cause developmental
Journal Title: Brain
Year Published: 2018
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Journal Title: Brain
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!