DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4

DEE4

http://purl.bioontology.org/ontology/OMIM/612164

DEE4

EIEE4

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4

C2677326

9q34.1

DEE4

UNC18

STXBP1

http://purl.bioontology.org/ontology/OMIM/MTHU021435

http://purl.bioontology.org/ontology/OMIM/MTHU000302

http://purl.bioontology.org/ontology/OMIM/MTHU000806

http://purl.bioontology.org/ontology/OMIM/MTHU046381

http://purl.bioontology.org/ontology/OMIM/MTHU062534

http://purl.bioontology.org/ontology/OMIM/MTHU004041

http://purl.bioontology.org/ontology/OMIM/MTHU014120

http://purl.bioontology.org/ontology/OMIM/MTHU021975

http://purl.bioontology.org/ontology/OMIM/MTHU021428

http://purl.bioontology.org/ontology/OMIM/MTHU001319

http://purl.bioontology.org/ontology/OMIM/MTHU021426

http://purl.bioontology.org/ontology/OMIM/MTHU028611

http://purl.bioontology.org/ontology/OMIM/MTHU006120

http://purl.bioontology.org/ontology/OMIM/MTHU071737

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU046383

http://purl.bioontology.org/ontology/OMIM/MTHU010507

http://purl.bioontology.org/ontology/OMIM/MTHU021427

http://purl.bioontology.org/ontology/OMIM/MTHU021431

http://purl.bioontology.org/ontology/OMIM/MTHU000470

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU001237

http://purl.bioontology.org/ontology/OMIM/MTHU021429

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

612164

3

pound

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4

Seizures may be fever-sensitive [MISCELLANEOUS]

De novo mutation (in most patients) [MISCELLANEOUS]

Variable severity [MISCELLANEOUS]

Homozygous STXBP1 mutation reported in 2 siblings [MISCELLANEOUS]

Seizures are usually intractable [MISCELLANEOUS]

Caused by mutation in the syntaxin-binding protein 1 gene (STXBP1, 602926.0001) [MOLECULAR BASIS]

Onset in neonatal period or infancy [MISCELLANEOUS]

T047