Spasticity - intellectual deficit - X-linked epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: XMESID
OHTAHARA SYNDROME, X-LINKED
INFANTILE SPASM SYNDROME, X-LINKED 1
INFANTILE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY
WEST SYNDROME, X-LINKED
ISSX1
EIEE1
Number of Symptoms 21
OrphanetNr: 3175
OMIM Id: 308350
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: ARX-related epileptic encephalopathy
 -Rare genetic disease
 -Rare neurologic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
3
(HPO:0001266) Choreoathetosis 57 / 7739
4
(HPO:0001332) Dystonia 197 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
7
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
8
(HPO:0001257) Spasticity 251 / 7739
9
(HPO:0002521) Hypsarrhythmia 43 / 7739
10
(HPO:0001347) Hyperreflexia 363 / 7739
11
(HPO:0002015) Dysphagia 301 / 7739
12
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
13
(HPO:0002094) Dyspnea 132 / 7739
14
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
15
(OMIM) Quadriplegic dyskinesia 2 / 7739
16
(HPO:0002119) Ventriculomegaly 253 / 7739
17
(OMIM) Intractable seizures 12 / 7739
18
(OMIM) Status dystonicus 2 / 7739
19
(OMIM) Arrest of psychomotor development after seizure onset 2 / 7739
20
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
21
(OMIM) MRI shows T2-weighted signals in the basal ganglia 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized ...
Clinical Description OMIM Feinberg and Leahy (1977) reported X-linked recessive inheritance of infantile seizures in a family in which 5 males in 4 sibships spanning 3 generations were affected. Although the proband was still living at the time of the report, ...
Genotype-Phenotype Correlations OMIM Fullston et al. (2010) identified a truncating mutation in the ARX gene (Y27X; 300382.0023) in 2 male first cousins with EIEE1. Although the patients had a severe form of the disorder with early-onset refractory seizures and essentially no ...
Molecular genetics OMIM Stromme et al. (2002) found that one of the genes in the mapping interval for infantile spasm syndrome was the aristaless-related homeobox gene ARX. They considered it a candidate gene underlying ISSX, primarily on the basis of its ...