Epileptic encephalopathy with global cerebral demyelination

General Information (adopted from Orphanet):

Synonyms, Signs: ASPARTATE-GLUTAMATE CARRIER 1 DEFICIENCY
AGC1 DEFICIENCY
Mitochondrial aspartate-glutamate carrier 1 deficiency
Number of Symptoms 17
OrphanetNr: 353217
OMIM Id: 612949
ICD-10: G31.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

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:0000817) Poor eye contact 26 / 7739
2
 (HPO:0001257) Spasticity 251 / 7739
3
 (HPO:0001347) Hyperreflexia 363 / 7739
4
 (HPO:0001263) Global developmental delay 853 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
7
 (OMIM) MR spectroscopy shows decreased N-acetyl aspartate 1 / 7739
8
 (OMIM) Increased plasma lactate 1 / 7739
9
 (OMIM) MRI shows global lack of myelination in the cerebral hemispheres 1 / 7739
10
 (OMIM) Apneic spells 3 / 7739
11
 (HPO:0006808) Cerebral hypomyelination 16 / 7739
12
 (OMIM) Gray matter appears relatively unaffected 1 / 7739
13
 (HPO:0003593) Infantile onset 249 / 7739
14
 (OMIM) Crawling and standing not achieved 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Delayed psychomotor development, severe 14 / 7739
17
 (OMIM) Decreased supratentorial volume 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wibom et al. (2009) reported a 3-year-old girl, born of distantly related Swedish parents, with severe psychomotor retardation, hypotonia, and hypomyelination of the central nervous system. Delayed development was first noted at age 5 months. Seizures and episodic ...
Molecular genetics OMIM In a Swedish girl with global cerebral hypomyelination and severe psychomotor retardation, Wibom et al. (2009) identified a homozygous mutation in the SLC25A12 gene (603667.0001). In vitro functional expression studies showed impaired protein activity. Wibom et al. (2009) ...