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1 records shown · first 60A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
PMID 31035234 | DOI 10.1016/j.seizure.2019.04.016 · Seizure · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg84Gln | “RESULTS: Genetic analysis revealed a single variant in the PRICKLE1 gene NM_153026.2: c.251 G > A (p.Arg84Gln).” | 0.95 | hgvs_regex_v1 |
| gene | PRICKLE1 | “A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | congenital myopathy | “Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy.” | 0.93 | phenotype_alias_lexicon_v2 |