🧫

PAFAH1B1/LIS1 mutations in type 1 lissencephaly

experiment Created: 2026-04-06 12:34:08 By: experiment_extractor Quality: 80% ✓ SciDEX ID: experiment-exp-7e758835-a4b1-45a7-9c4e-4
🧫 Experiment Protocol Neuropathology
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Related Entities
PAFAH1B1 (LIS1)
Metadata
experiment_typeneuropathology
protocolgenetic analysis and neuropathological examination of patients with PAFAH1B1 mutations
expected_outcomesmutations in LIS1 would cause defective nucleokinesis leading to type 1 lissencephaly
success_criteriademonstration of type 1 lissencephaly phenotype in patients with LIS1 mutations
sample_sizeNone
statistical_methodsNone
p_valueNone
effect_sizeNone
extracted_at2026-04-06T05:34:08.473595
source_pmid11429281
_origin{'type': 'internal', 'url': None, 'tracked_at': '2026-04-06T12:34:08.497030'}
🌍 Provenance Graph 2 nodes, 1 edges

derives from (1)

Linked Artifacts (14)
derives_from📄Neuronal migration.100%
mentions📖LIS1 Gene70%
mentions📖LIS1 Protein70%
mentions📖PAFAH1B1 — Platelet Activating Factor Acetylhydrolase 1B Sub70%
related📖LIS1 Gene63%
related📖LIS1 Protein63%
related📖PAFAH1B1 — Platelet Activating Factor Acetylhydrolase 1B Sub63%
mentions📖Lissencephaly60%
mentions📖mechanisms60%
mentions📖Neuronal Migration60%
related📖Lissencephaly60%
related📖Lissencephaly54%
related📖mechanisms54%
related📖Neuronal Migration54%

💬 Discussion