Investigating the effect of genetic factors on phenotypic heterogeneity of SCN2A related neurodevelopmental disorders

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00035558

Enrollment

200

Registered

2024-11-25

Start date

2024-11-01

Completion date

Unknown

Last updated

2025-12-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

SCN2A related neurodevelopmental disorders

Interventions

Group 1: To better understand the potential role of modifying genetic factors, we aim to collect biosamples from patients with SCN2A-related disorders and their family members. These samples will be s

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: patients with SCN2A related disorders and their relatives

Exclusion criteria

Exclusion criteria: none

Design outcomes

Primary

Measure	Time frame
better understanding of the molecular background of phenotypic variability in SCN2A-related diseases	—

Secondary

Measure	Time frame
identification of modifying factors regarding penetrance and expressivity	—

Countries

Germany

Contacts

Public ContactWalid Fazeli

Abteilung für Neuropädiatrie & SPZ, Zentrum für Kinderheilkunde, Universitätsklinikum Bonn

scn2a-kinderneurologie@ukbonn.de0228 287 33594

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026