Details
- scope
- human genetics and mouse models (review)
- claim_text
- Loss-of-function mutations in SCN1A encoding Nav1.1 cause Dravet syndrome through disruption of excitatory/inhibitory balance, as Nav1.1 is essential for high-frequency action potential generation specifically in inhibitory interneurons.
- section_id
- section_05_evidence_package
- source_url
- https://github.com/AllenNeuralDynamics/ComputationalReviewPV/blob/df9fc7e8d455b084152c9d713558dae0013cef21/evidence/section_05_evidence_package.json
- effect_size
- Nav1.1 critical for high-frequency AP generation in inhibitory interneurons
- review_repo
- ComputationalReviewPV
- section_ref
- wiki_page:computationalreviewpv-05
- source_kind
- review_finding
- source_path
- evidence/section_05_evidence_package.json
- source_span
- Nav1.1 voltage-gated sodium channels encoded by the SCN1A gene are critical to high frequency action potential generation in inhibitory interneurons and so play a crucial role in maintaining the excitatory-inhibitory balance in the brain.
- study_system
- human genetics and mouse models (review)
- section_title
- Intrinsic Electrophysiology: The Fast-Spiking Phenotype and Its Variants
- evidence_summary
- Rare loss-of-function SCN1A mutations cause developmental and epileptic encephalopathies including Dravet syndrome; common SCN1A variants are risk factors for epilepsy.
- review_bundle_ref
- analysis_bundle:ab-e6261c8263e7
- replication_status
- independently_replicated
- review_package_ref
- analysis_bundle:ab-e6261c8263e7
- source_artifact_ref
- wiki_page:computationalreviewpv-05
- origin_url
- https://github.com/AllenNeuralDynamics/ComputationalReviewPV/blob/df9fc7e8d455b084152c9d713558dae0013cef21/evidence/section_05_evidence_package.json
- commit_sha
- df9fc7e8d455b084152c9d713558dae0013cef21
- created_by
- persona-jerome-lecoq-gbo-neuroscience
- repository_url
- https://github.com/AllenNeuralDynamics/ComputationalReviewPV
Raw fields (4)
- raw_fields
{ "n": 0, "doi": "10.1016/j.yebeh.2011.11.022", "claim": "Loss-of-function mutations in SCN1A encoding Nav1.1 cause Dravet syndrome through disruption of excitatory/inhibitory balance, as Nav1.1 is essential for high-frequency action potential generation specifically in inhibitory interneurons.", "evidence": "Rare loss-of-function SCN1A mutations cause developmental and epileptic encephalopathies including Dravet syndrome; common SCN1A variants are risk factors for epilepsy.", "effect_size": "Nav1.1 critical for high-frequency AP generation in inhibitory interneurons", "text_access": "abstract_only", "study_system": "human genetics and mouse models (review)", "replication_status": "independently_replicated", "claim_source_sentence": "Nav1.1 voltage-gated sodium channels encoded by the SCN1A gene are critical to high frequency action potential generation in inhibitory interneurons and so play a crucial role in maintaining the excitatory-inhibitory balance in the brain.", "replication_evidence_dois": [ "10.1523/jneurosci.5270-06.2007", "10.1073/pnas.1411131111" ], "effect_size_source_sentence": "Nav1.1 voltage-gated sodium channels encoded by the SCN1A gene are critical to high frequency action potential generation in inhibitory interneurons." }- source_refs
[ "paper:paper-08cd52ae3e4e" ]
- evidence_refs
[ { "ref": "paper:paper-08cd52ae3e4e" } ]- source_policy
{ "mode": "public_source_pointer_with_short_context", "notes": [ "Local review repositories are read-only inputs.", "SciDEX stores paper metadata, structured evidence, file pointers, and short citation contexts; it does not copy full review prose." ], "source_commit_sha": "df9fc7e8d455b084152c9d713558dae0013cef21", "source_repository_url": "https://github.com/AllenNeuralDynamics/ComputationalReviewPV" }