Early infantile epileptic encephalopathy without suppression burst

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE18
Number of Symptoms 23
OrphanetNr: 369894
OMIM Id: 615476
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Infantile epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease
Monogenic disease with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Neonatal epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000348) High forehead 157 / 7739
2
 (HPO:0002553) Highly arched eyebrow 92 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
4
 (HPO:0000508) Ptosis 459 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0002121) Absence seizures 62 / 7739
7
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
8
 (HPO:0007359) Focal seizures 27 / 7739
9
 (HPO:0001265) Hyporeflexia 208 / 7739
10
 (HPO:0002197) Generalized seizures 30 / 7739
11
 (HPO:0002353) EEG abnormality 188 / 7739
12
 (HPO:0010547) Muscle flaccidity 466 / 7739
13
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
14
 (HPO:0001324) Muscle weakness 859 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (OMIM) Laterally placed eyebrows 1 / 7739
17
 (HPO:0007074) Thick corpus callosum 5 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Abnormal spike waves 1 / 7739
20
 (OMIM) MRI shows short, thick corpus callosum 1 / 7739
21
 (OMIM) Intractable seizures 12 / 7739
22
 (OMIM) Slowed background activity 1 / 7739
23
 (OMIM) Persistent cavus septum pellucidum 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on ...
Clinical Description OMIM Basel-Vanagaite et al. (2013) reported 2 unrelated children with early-onset epileptic encephalopathy. Both showed severely delayed psychomotor development with hypotonia since infancy, lack of speech, and inability to sit or stand unsupported. A 10-year-old girl, born of unrelated ...
Molecular genetics OMIM In 2 unrelated patients with early infantile epileptic encephalopathy-18, Basel-Vanagaite et al. (2013) identified biallelic truncating mutations in the SZT2 gene (615463.0001-615463.0003). The mutations were found by whole-exome sequencing and segregated with the disorder in the families. The ...