Early myoclonic encephalopathy

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE3
Early myoclonic encephalopathy with suppression-bursts
Number of Symptoms 14
OrphanetNr: 1935
OMIM Id: 609304
ICD-10: G31.8
UMLs: C0270855
MeSH:
MedDRA:
Snomed: 44423001

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mitochondrial substrate carrier disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Neonatal epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000253) Progressive microcephaly 37 / 7739
2
 (HPO:0000649) Abnormality of visual evoked potentials 34 / 7739
3
 (HPO:0200134) Epileptic encephalopathy 42 / 7739
4
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
5
 (HPO:0001257) Spasticity 251 / 7739
6
 (HPO:0001319) Neonatal hypotonia 101 / 7739
7
 (OMIM) Myoclonic seizures, intractable 1 / 7739
8
 (OMIM) EEG shows burst suppression 1 / 7739
9
 (HPO:0012448) Delayed myelination 51 / 7739
10
 (OMIM) Early death 13 / 7739
11
 (OMIM) Evolution to severe encephalopathy 1 / 7739
12
 (HPO:0003819) Death in childhood 42 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Early infantile epileptic encephalopathy is characterized by onset during the first months of life of erratic refractory seizures, usually myoclonic. The prognosis is poor, and most children with the condition either die within 1 to 2 years after ...
Clinical Description OMIM Molinari et al. (2005) investigated a sibship of 4 affected children (2 girls and 2 boys) and 4 healthy children born to Arab Muslim parents in Jerusalem who were first cousins. The proband was examined at age 2 ...
Molecular genetics OMIM Molinari et al. (2005) mapped the disorder in their family to 11p15.5 and identified a homozygous missense mutation (609302.0001) in a gene encoding a mitochondrial glutamate/H+ symporter, SLC25A22. Glutamate oxidation in cultured skin fibroblasts from patients was strongly ...