SERPINI1 and Epilepsy: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

SERPINI1

Serpin Family I Member 1

Disorder

Epilepsy

First reported 2004

Supporting publications 1

Key publication · gene–disorder Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB.European journal of biochemistry · 2004

Key publication · disorder [Differential diagnosis of genuine and so-called traumatic epilepsy].Archiv fur Psychiatrie und Nervenkrankheiten, vereinigt mit Zeitschrift fur die gesamte Neurologie und Psychiatrie · 1950

Manually curated

Association Review

In brief

The association between SERPINI1 (Serpin Family I Member 1) and Epilepsy is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 11

Compounds 0

Trials 0

Publications 1

01

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

02

Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

03

SERPINI1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

04

Epilepsy

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

05

Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

06

Provenance

References & sources

4 references

Every source and publication cited across this dossier, as one numbered reference list.