Generalized epilepsy - paroxysmal dyskinesia

General Information (adopted from Orphanet):

Synonyms, Signs: EPILEPSY, GENERALIZED, WITH PAROXYSMAL DYSKINESIA
GEPD
Number of Symptoms 8
OrphanetNr: 79137
OMIM Id: 609446
ICD-10: G40.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0011147) Typical absence seizures 33 / 7739
2
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
3
(HPO:0007166) Paroxysmal dyskinesia 3 / 7739
4
(HPO:0010849) EEG with spike-wave complexes (>3.5 Hz) 6 / 7739
5
(HPO:0002121) Absence seizures 62 / 7739
6
(OMIM) Paroxysmal nonkinesigenic dyskinesia 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Interictal EEG shows 3-4 Hz general spike-wave complexes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family had been described by Guerrini (2001), Guerrini et al., 2002), and others. Du et al. (2005) studied a large family with the combination of generalized ...
Molecular genetics OMIM Owing to the importance of ion channels in epilepsy and paroxysmal movement disorders, such as episodic ataxia (see 160120), Du et al. (2005) hypothesized that mutations in genes encoding ion channels might cause GEPD and identified 2 genes ...