Recurrent c.‐11C>T change located upstream of the normal ATG initiation codon of <i>ANKH</i> causes self‐limited familial infantile epilepsy
To our knowledge, we report the second family with autosomal dominant epilepsy caused by an ANKH c.-11C>T variant. The pediatric phenotype closely resembles that of the previously reported British family, suggesting low phenotypic heterogeneity, and aligns with SeLFIE. ANKH-associated epilepsy should be considered in SeLFIE, especially in cases with a family history of chondrocalcinosis or recurrent acute joint pain episodes.
Authors
- Tobias B. Haack (ORCID: https://orcid.org/0000-0001-6033-4836)
- Ingrid Bader (ORCID: https://orcid.org/0000-0003-0001-8799)
- Josua Kegele (ORCID: https://orcid.org/0000-0002-0126-7466)
- Hendrik Juenger
- Marc Sturm (ORCID: https://orcid.org/0000-0002-6552-8362)
- Holger Lerche
- Dieter Gläser
- Harald Frantzmann
Institutions
- Kempten University of Applied Sciences (DE)
- Genetikum (DE)
- Deutsche Akademie für Kinder- und Jugendmedizin (DE)
- Hertie Institute for Clinical Brain Research (DE)
- ERN GUARD-Heart (NL)
- Kernkraftwerk Gundremmingen (DE)
- University of Tübingen (DE)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-06-27
- DOI
- https://doi.org/10.1111/epi.18504
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Eberhard Karls Universität Tübingen