Infantile convulsions and choreoathetosis

General Information (adopted from Orphanet):

Synonyms, Signs: ICCA SYNDROME PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS
PKD/IC
INFANTILE CONVULSIONS AND PAROXYSMAL CHOREOATHETOSIS, FAMILIAL
ICCA
Paroxysmal kinesigenic dyskinesia and infantile convulsions
ICCA syndrome
Number of Symptoms 20
OrphanetNr: 31709
OMIM Id: 602066
ICD-10: G40.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Benign partial infantile seizures
 -Rare genetic disease
 -Rare neurologic disease
Paroxysmal dyskinesia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0007098) Paroxysmal choreoathetosis 6 / 7739
2
(HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
3
(HPO:0000739) Anxiety 67 / 7739
4
(HPO:0000733) Stereotypy Occasional [Orphanet] 58 / 7739
5
(HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
6
(HPO:0002372) Normal interictal EEG 5 / 7739
7
(HPO:0007359) Focal seizures 27 / 7739
8
(HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
9
(HPO:0002268) Paroxysmal dystonia 11 / 7739
10
(HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
11
(HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
12
(HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
13
(HPO:0002197) Generalized seizures 30 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(OMIM) Involuntary movements may be precipitated by exertion or anxiety 1 / 7739
16
(HPO:0040168) Focal seizures, afebril 6 / 7739
17
(OMIM) Secondary generalization may occur 2 / 7739
18
(OMIM) Normal psychomotor development 8 / 7739
19
(OMIM) Seizures occur in clusters 4 / 7739
20
(OMIM) Seizures often begin with head and eye deviation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Benign familial infantile convulsions (BFIC; see 601764) is an autosomal dominant disorder characterized by afebrile seizures occurring between 3 and 12 months of age. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously ...
Clinical Description OMIM Szepetowski et al. (1997) studied 4 families from northwestern France in which benign infantile convulsions was inherited as an autosomal dominant trait together with variably expressed paroxysmal choreoathetosis. The authors suggested that the strong association of the 2 ...
Molecular genetics OMIM Using a combination of exome sequencing and linkage analysis in 2 large Han Chinese families with EKD1 (128200), Wang et al. (2011) identified 2 different heterozygous truncating mutations in the PRRT2 gene (649dupC; 614386.0001 and 614386.0009, respectively) that ...