Developmental and epileptic encephalopathy 41

Preferred Label : Developmental and epileptic encephalopathy 41;

Symbol : DEE41;

CISMeF acronym : EIEE41;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 41; EIEE41;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 1 (glial high affinity glutamate transporter), member 2 gene (SLC1A2, 600300.0001);

Prefixed ID : #617105;

Details

Origin ID

617105;

UMLS CUI

C4310717;

Automatic exact mappings (from CISMeF team)
- SLC1A2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 41 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 41 [DO Concept]
Genes related to phenotype
- Solute carrier family 1 (glial high affinity glutamate transporter), member 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Developmental regression [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability, profound [HPO term]
- Irritability [HPO term]
- Kyphoscoliosis [HPO term]
- Lethargy [HPO term]
- Microcephaly [HPO term]
- Neonatal onset [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Early myoclonic encephalopathy [ORDO Disease]
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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