Familial infantile myoclonic epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: FIME
EIM
Number of Symptoms 16
OrphanetNr: 352582
OMIM Id: 605021
ICD-10: G40.3
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

Symptom Information: Sort by abundance 

1
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
 (HPO:0002373) Febrile seizures 37 / 7739
6
 (HPO:0007359) Focal seizures 27 / 7739
7
 (HPO:0002311) Incoordination 84 / 7739
8
 (HPO:0002066) Gait ataxia 327 / 7739
9
 (OMIM) Myoclonic seizures, frequent, long-lasting (many hours) 1 / 7739
10
 (OMIM) Dysarthria, mild 2 / 7739
11
 (OMIM) Ictal EEG with bisynchronous spike waves 1 / 7739
12
 (OMIM) Brain MRI shows abnormal cortical thickening in the anteromesial frontal areas (1 family) 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0003828) Variable expressivity 130 / 7739
15
 (HPO:0003593) Infantile onset 249 / 7739
16
 (OMIM) Delayed motor and speech development, mild (1 family) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Zara et al. (2000) studied a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that started in early infancy and manifest as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. There was a favorable response to antiepileptic medication, ...
Molecular genetics OMIM In affected members of a large Italian family with infantile myoclonic epilepsy mapping to chromosome 16p13.3 (Zara et al., 2000), Falace et al. (2010) identified compound heterozygosity for 2 mutations in the TBC1D24 gene (613577.0001 and 613577.0002) that ...