developmental and epileptic encephalopathy 116
MONDO:0970945Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 116 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- CNS hypomyelinationHPOHP:0003429
- 7 of 7 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 8 of 8 reported patients
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Generalized-onset seizureHPOHP:0002197
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 9 of 9 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 2 reported patients
- Profound global developmental delayHPOHP:0012736
- 9 of 9 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 6 of 8 reported patients
- Dilation of Virchow-Robin spacesHPOHP:0012520
- 5 of 7 reported patients
- Thin corpus callosumHPOHP:0033725
- 5 of 7 reported patients
- Decreased CSF glutamine concentrationHPOHP:0500198
- 2 of 7 reported patients
- HypoglutaminemiaHPOHP:0500147
- 2 of 8 reported patients
Show the remaining 6
- Focal clonic seizureHPOHP:0002266
- 2 of 9 reported patients
- Tonic seizureHPOHP:0032792
- 2 of 9 reported patients
- Focal myoclonic seizureHPOHP:0011166
- 1 of 9 reported patients
- Generalized myoclonic-atonic seizureHPOHP:0011170
- 1 of 9 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 9 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 9 reported patients
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.
- GLULHGNC:4341
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025