MCID: SZR016
MIFTS: 20

Seizures, Benign Familial Infantile, 2

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Seizures, Benign Familial Infantile, 2

MalaCards integrated aliases for Seizures, Benign Familial Infantile, 2:

Name: Seizures, Benign Familial Infantile, 2 57 75 29 13 6 73
Bfis2 57 75
Bfic2 57 75
Convulsions, Benign Familial Infantile, 2; Bfic2 57
Seizures, Infantile, Benign, Familial, Type 2 40
Seizures, Benign Familial Infantile, Type 2 40
Convulsions, Benign Familial Infantile, 2 57
Benign Familial Infantile Convulsions 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
average onset 6 months (range 3-9)
dyskinesia may occur in homozygotes (1 reported case)
seizures easily controlled by medications
seizures remit in early childhood
incomplete penetrance


HPO:

32
seizures, benign familial infantile, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 605751
MedGen 42 C1853995
MeSH 44 D020936
UMLS 73 C1853995

Summaries for Seizures, Benign Familial Infantile, 2

OMIM : 57 Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA; 602066) and paroxysmal kinesigenic choreoathetosis (EKD1; 128200). (605751)

MalaCards based summary : Seizures, Benign Familial Infantile, 2, also known as bfis2, is related to episodic kinesigenic dyskinesia 1 and convulsions, familial infantile, with paroxysmal choreoathetosis. An important gene associated with Seizures, Benign Familial Infantile, 2 is PRRT2 (Proline Rich Transmembrane Protein 2). Related phenotypes are migraine and generalized seizures

UniProtKB/Swiss-Prot : 75 Seizures, benign familial infantile, 2: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant.

Related Diseases for Seizures, Benign Familial Infantile, 2

Diseases in the Seizure Disorder family:

Seizures, Benign Familial Infantile, 1 Seizures, Benign Familial Infantile, 2
Seizures, Benign Familial Infantile, 3 Seizures, Benign Familial Infantile, 4
Seizures, Benign Familial Infantile, 5 Scn1a-Related Seizure Disorders

Diseases related to Seizures, Benign Familial Infantile, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 1 11.0
2 convulsions, familial infantile, with paroxysmal choreoathetosis 10.9

Symptoms & Phenotypes for Seizures, Benign Familial Infantile, 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, partial, afebrile
secondary generalization may occur
seizures, generalized, afebrile
seizures occur in clusters
normal psychomotor development
more

Clinical features from OMIM:

605751

Human phenotypes related to Seizures, Benign Familial Infantile, 2:

32
# Description HPO Frequency HPO Source Accession
1 migraine 32 occasional (7.5%) HP:0002076
2 generalized seizures 32 HP:0002197
3 focal seizures 32 HP:0007359
4 focal seizures, afebril 32 HP:0040168

Drugs & Therapeutics for Seizures, Benign Familial Infantile, 2

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Infantile, 2

Genetic Tests for Seizures, Benign Familial Infantile, 2

Genetic tests related to Seizures, Benign Familial Infantile, 2:

# Genetic test Affiliating Genes
1 Seizures, Benign Familial Infantile, 2 29 PRRT2

Anatomical Context for Seizures, Benign Familial Infantile, 2

Publications for Seizures, Benign Familial Infantile, 2

Variations for Seizures, Benign Familial Infantile, 2

UniProtKB/Swiss-Prot genetic disease variations for Seizures, Benign Familial Infantile, 2:

75
# Symbol AA change Variation ID SNP ID
1 PRRT2 p.Gly323Glu VAR_068426

ClinVar genetic disease variations for Seizures, Benign Familial Infantile, 2:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRRT2 PRRT2, IVS2DS, G-A, +5 single nucleotide variant Pathogenic
2 PRRT2 PRRT2, 1-BP DUP, 649C duplication Pathogenic
3 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs730882071 GRCh37 Chromosome 16, 29825024: 29825024
4 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs730882071 GRCh38 Chromosome 16, 29813703: 29813703
5 PRRT2 NM_145239.2(PRRT2): c.629delC (p.Pro210Glnfs) deletion Pathogenic rs730882072 GRCh37 Chromosome 16, 29825004: 29825004
6 PRRT2 NM_145239.2(PRRT2): c.629delC (p.Pro210Glnfs) deletion Pathogenic rs730882072 GRCh38 Chromosome 16, 29813683: 29813683
7 PRRT2 NM_145239.2(PRRT2): c.291delC (p.Asn98Thrfs) deletion Pathogenic rs730882073 GRCh38 Chromosome 16, 29813345: 29813345
8 PRRT2 NM_145239.2(PRRT2): c.291delC (p.Asn98Thrfs) deletion Pathogenic rs730882073 GRCh37 Chromosome 16, 29824666: 29824666
9 PRRT2 NM_145239.2(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 GRCh37 Chromosome 16, 29825123: 29825123
10 PRRT2 NM_145239.2(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 GRCh38 Chromosome 16, 29813802: 29813802
11 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
12 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh38 Chromosome 16, 29813703: 29813703
13 PRRT2 NM_145239.2(PRRT2): c.650delG (p.Arg217Glnfs) deletion Pathogenic rs730882124 GRCh37 Chromosome 16, 29825025: 29825025
14 PRRT2 NM_145239.2(PRRT2): c.650delG (p.Arg217Glnfs) deletion Pathogenic rs730882124 GRCh38 Chromosome 16, 29813704: 29813704
15 PRRT2 NM_001256442.1(PRRT2): c.959C> T (p.Ala320Val) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 29825733: 29825733
16 PRRT2 NM_001256442.1(PRRT2): c.959C> T (p.Ala320Val) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 29814412: 29814412

Expression for Seizures, Benign Familial Infantile, 2

Search GEO for disease gene expression data for Seizures, Benign Familial Infantile, 2.

Pathways for Seizures, Benign Familial Infantile, 2

GO Terms for Seizures, Benign Familial Infantile, 2

Sources for Seizures, Benign Familial Infantile, 2

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74 UMLS via Orphanet
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