BFIS2
MCID: SZR016
MIFTS: 25

Seizures, Benign Familial Infantile, 2 (BFIS2)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 72 29 13 6 70
Bfis2 57 72
Bfic2 57 72
Convulsions, Benign Familial Infantile, 2; Bfic2 57
Seizures, Infantile, Benign, Familial, Type 2 39
Seizures, Benign Familial Infantile, Type 2 39
Convulsions, Benign Familial Infantile, 2 57
Benign Familial Infantile Convulsions 2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
incomplete penetrance
seizures easily controlled by medications
average onset 6 months (range 3-9)
dyskinesia may occur in homozygotes (1 reported case)
seizures remit in early childhood

Inheritance:
autosomal dominant


HPO:

31
seizures, benign familial infantile, 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 605751
OMIM Phenotypic Series 57 PS601764
MeSH 44 D020936
MedGen 41 C1853995
UMLS 70 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) (Updated 05-Apr-2021)

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 focal-onset seizure

UniProtKB/Swiss-Prot : 72 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

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

31
# Description HPO Frequency HPO Source Accession
1 migraine 31 occasional (7.5%) HP:0002076
2 focal-onset seizure 31 HP:0007359
3 generalized-onset seizure 31 HP:0002197

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
normal psychomotor development
seizures, partial, afebrile
seizures, generalized, afebrile
secondary generalization may occur
seizures occur in clusters
more

Clinical features from OMIM®:

605751 (Updated 05-Apr-2021)

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

Articles related to Seizures, Benign Familial Infantile, 2:

(show all 16)
# Title Authors PMID Year
1
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. 61 6 57
22399141 2012
2
PRRT2 mutations are the major cause of benign familial infantile seizures. 6 57
22623405 2012
3
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 57 6
22243967 2012
4
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 6 57
12953268 2003
5
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome. 57 6
9579893 1997
6
The evolving spectrum of PRRT2-associated paroxysmal diseases. 6
26598493 2015
7
PRRT2 and hemiplegic migraine: a complex association. 57
24928127 2014
8
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 6
22744660 2012
9
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 6
22209761 2012
10
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 6
22131361 2012
11
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 6
22120146 2011
12
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 6
22101681 2011
13
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families. 57
16822249 2006
14
Refinement of the chromosome 16 locus for benign familial infantile convulsions. 57
15857419 2005
15
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families. 57
15144424 2004
16
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. 57
11179027 2001

Variations for Seizures, Benign Familial Infantile, 2

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

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRRT2 NM_145239.3(PRRT2):c.879+5G>A SNV Pathogenic 31173 rs1596893185 GRCh37: 16:29825259-29825259
GRCh38: 16:29813938-29813938
2 PRRT2 NM_145239.3(PRRT2):c.629del (p.Pro210fs) Deletion Pathogenic 39754 rs730882067 GRCh37: 16:29824998-29824998
GRCh38: 16:29813677-29813677
3 PRRT2 NM_145239.3(PRRT2):c.291del (p.Asn98fs) Deletion Pathogenic 39755 rs730882073 GRCh37: 16:29824665-29824665
GRCh38: 16:29813344-29813344
4 PRRT2 NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) SNV Pathogenic 39756 rs397514579 GRCh37: 16:29825123-29825123
GRCh38: 16:29813802-29813802
5 PRRT2 NM_145239.3(PRRT2):c.650del (p.Arg217fs) Deletion Pathogenic 183020 rs730882124 GRCh37: 16:29825025-29825025
GRCh38: 16:29813704-29813704
6 PRRT2 NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) SNV Pathogenic 440911 rs1301400509 GRCh37: 16:29825733-29825733
GRCh38: 16:29814412-29814412
7 PRRT2 NC_000016.10:g.(?_29813054)_(29813955_?)del Deletion Pathogenic 813798 GRCh37:
GRCh38:
8 PRRT2 NM_145239.3(PRRT2):c.649dup (p.Arg217fs) Duplication Pathogenic 65758 GRCh37: 16:29825015-29825016
GRCh38: 16:29813694-29813695
9 PRRT2 NM_145239.3(PRRT2):c.649del (p.Arg217fs) Deletion Pathogenic 39752 rs587778771 GRCh37: 16:29825016-29825016
GRCh38: 16:29813695-29813695
10 PRRT2 NM_145239.3(PRRT2):c.649dup (p.Arg217fs) Duplication Pathogenic/Likely pathogenic 65758 GRCh37: 16:29825015-29825016
GRCh38: 16:29813694-29813695
11 PRRT2 NM_145239.3(PRRT2):c.304del (p.Glu102fs) Deletion Likely pathogenic 626000 rs1567379016 GRCh37: 16:29824679-29824679
GRCh38: 16:29813358-29813358
12 PRRT2 NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala) SNV Likely pathogenic 813802 GRCh37: 16:29825210-29825210
GRCh38: 16:29813889-29813889
13 PRRT2 NM_145239.3(PRRT2):c.341_342del (p.Val114fs) Deletion Likely pathogenic 976325 GRCh37: 16:29824715-29824716
GRCh38: 16:29813394-29813395
14 PRRT2 NM_145239.3(PRRT2):c.839T>C (p.Met280Thr) SNV Uncertain significance 953068 rs1419914220 GRCh37: 16:29825214-29825214
GRCh38: 16:29813893-29813893
15 PRRT2 NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) SNV Uncertain significance 404415 rs779020826 GRCh37: 16:29825010-29825010
GRCh38: 16:29813689-29813689
16 PRRT2 NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) SNV Uncertain significance 568591 rs200877676 GRCh37: 16:29824809-29824809
GRCh38: 16:29813488-29813488
17 PRRT2 NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) SNV Uncertain significance 499732 rs767799831 GRCh37: 16:29825687-29825687
GRCh38: 16:29814366-29814366
18 PRRT2 NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) SNV not provided 284592 rs560303559 GRCh37: 16:29825148-29825148
GRCh38: 16:29813827-29813827

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

72
# Symbol AA change Variation ID SNP ID
1 PRRT2 p.Gly323Glu VAR_068426

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

3 CDC
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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