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- NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_assertion type Assertion NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_head.
- NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_assertion description "[proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca (v) 2.1 currents caused by the mutation may increase neurotransmitter release in excitatory neurons ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_provenance.
- NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_assertion evidence source_evidence_literature NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_provenance.
- NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_assertion SIO_000772 18755274 NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_provenance.
- NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_assertion wasDerivedFrom lhgdn-20090331 NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_provenance.
- NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_assertion wasGeneratedBy ECO_0000203 NP241493.RAl-N64ciHhOYx8E71g1B8Vmx-bGtjBNKbfYMGkOammIQ130_provenance.