developmental and epileptic encephalopathy, 5
Findings
No curated finding names developmental and epileptic encephalopathy, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013277), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 3 of 3 reported patients
- Progressive microcephalyHPOHP:0000253
- 3 of 3 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 3 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
Show the remaining 1
- Epileptic encephalopathyHPOHP:0200134
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SPTAN1HGNC:11273
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: developmental and epileptic encephalopathy, 5
- Also called
- DEE5developmental and epileptic encephalopathy 5early infantile epileptic encephalopathy caused by mutation in SPTAN1EIEE5epileptic encephalopathy, early infantile, 5epileptic encephalopathy, early infantile, type 5SPTAN1 early infantile epileptic encephalopathy