MCID: SZR024
MIFTS: 11

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 56
Convulsions, Benign Familial Neonatal, Autosomal Recessive 56
Epilepsy, Benign Familial Neonatal, Autosomal Recessive 56
Bfns, Autosomal Recessive 56

Characteristics:

OMIM:

56
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:

31
seizures, benign familial neonatal, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 269720
MedGen 41 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:

31
# Description HPO Frequency HPO Source Accession
1 hypertonia 31 HP:0001276
2 generalized tonic-clonic seizures 31 HP:0002069
3 normal interictal eeg 31 HP:0002372

Symptoms via clinical synopsis from OMIM:

56
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. 56
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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