MCID: SZR024
MIFTS: 10

Seizures, Benign Familial Neonatal, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Seizures, Benign Familial Neonatal, Autosomal Recessive

MalaCards integrated aliases for Seizures, Benign Familial Neonatal, Autosomal Recessive:

Name: Seizures, Benign Familial Neonatal, Autosomal Recessive 57
Convulsions, Benign Familial Neonatal, Autosomal Recessive 57
Epilepsy, Benign Familial Neonatal, Autosomal Recessive 57
Bfns, Autosomal Recessive 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at 6-36 hours of life
seizures resolve by 4 months of age
see ebn1 () for an autosomal dominant form


HPO:

32
seizures, benign familial neonatal, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 269720
MedGen 42 C1849250

Summaries for Seizures, Benign Familial Neonatal, Autosomal Recessive

MalaCards based summary : Seizures, Benign Familial Neonatal, Autosomal Recessive, is also known as convulsions, benign familial neonatal, autosomal recessive. Related phenotypes are hypertonia and generalized tonic-clonic seizures

More information from OMIM: 269720

Related Diseases for Seizures, Benign Familial Neonatal, Autosomal Recessive

Symptoms & Phenotypes for Seizures, Benign Familial Neonatal, Autosomal Recessive

Human phenotypes related to Seizures, Benign Familial Neonatal, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 hypertonia 32 HP:0001276
2 generalized tonic-clonic seizures 32 HP:0002069
3 normal interictal eeg 32 HP:0002372

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
normal interictal eeg
normal psychomotor development
seizures, generalized tonic-clonic
hypertonia in neonatal period
patients may develop a seizure disorder later in life

Clinical features from OMIM:

269720

Drugs & Therapeutics for Seizures, Benign Familial Neonatal, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Seizures, Benign Familial Neonatal, Autosomal Recessive

Genetic Tests for Seizures, Benign Familial Neonatal, Autosomal Recessive

Anatomical Context for Seizures, Benign Familial Neonatal, Autosomal Recessive

Publications for Seizures, Benign Familial Neonatal, Autosomal Recessive

Articles related to Seizures, Benign Familial Neonatal, Autosomal Recessive:

# Title Authors PMID Year
1
An autosomal recessive form of benign familial neonatal seizures. 8
1778008 1991

Variations for Seizures, Benign Familial Neonatal, Autosomal Recessive

Expression for Seizures, Benign Familial Neonatal, Autosomal Recessive

Search GEO for disease gene expression data for Seizures, Benign Familial Neonatal, Autosomal Recessive.

Pathways for Seizures, Benign Familial Neonatal, Autosomal Recessive

GO Terms for Seizures, Benign Familial Neonatal, Autosomal Recessive

Sources for Seizures, Benign Familial Neonatal, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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