EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

General Information (adopted from Orphanet):

Synonyms, Signs: EIEE14
Number of Symptoms 33
OrphanetNr:
OMIM Id: 614959
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0002376) Developmental regression 74 / 7739
3
(HPO:0001347) Hyperreflexia 363 / 7739
4
(HPO:0002169) Clonus 37 / 7739
5
(HPO:0200134) Epileptic encephalopathy 42 / 7739
6
(HPO:0000817) Poor eye contact rare [HPO:skoehler] 26 / 7739
7
(HPO:0002445) Tetraplegia 26 / 7739
8
(HPO:0001257) Spasticity 251 / 7739
9
(HPO:0002133) Status epilepticus 59 / 7739
10
(HPO:0001252) Muscular hypotonia 990 / 7739
11
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
(HPO:0010547) Muscle flaccidity 466 / 7739
13
(HPO:0001324) Muscle weakness 859 / 7739
14
(OMIM) Delayed myelination seen on MRI 1 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
17
(OMIM) Eye deviation 2 / 7739
18
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
19
(MedDRA:10041953) Staring 5 / 7739
20
(OMIM) Lack of speech development 20 / 7739
21
(HPO:0003676) Progressive disorder 148 / 7739
22
(OMIM) Autonomic manifestations 1 / 7739
23
(HPO:0002120) Cerebral cortical atrophy 187 / 7739
24
(OMIM) Reactive gliosis 3 / 7739
25
(OMIM) Facial twitching 1 / 7739
26
(OMIM) Migrating focal discharges from one cortical region to another seen on EEG 1 / 7739
27
(OMIM) Seizures, partial with secondary generalization, focal at onset, usually motor 1 / 7739
28
(OMIM) Spasticity of the lower limbs 5 / 7739
29
(HPO:0002171) Gliosis 48 / 7739
30
(OMIM) Multifocal discharges seen on EEG 2 / 7739
31
(OMIM) Neuronal loss in the hippocampus 1 / 7739
32
(OMIM) Psychomotor regression, severe 1 / 7739
33
(OMIM) Lack of motor development 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas ...
Clinical Description OMIM Coppola et al. (1995) first delineated MMPSI as a clinical entity. Fourteen infants presented at a mean age of 3 months with nearly continuous multifocal seizures involving both cerebral hemispheres. The seizures usually started as focal motor seizures ...
Molecular genetics OMIM In 6 (50%) of 12 unrelated patients with sporadic occurrence of early infantile epileptic encephalopathy-14 clinically manifest as MMPSI, Barcia et al. (2012) identified 4 different de novo heterozygous mutations in the KCNT1 gene (608167.0001-608167.0004). The first 2 ...