MCID: SZR024
MIFTS: 12

Seizures, Benign Familial Neonatal, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare 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 58
Convulsions, Benign Familial Neonatal, Autosomal Recessive 58
Epilepsy, Benign Familial Neonatal, Autosomal Recessive 58
Bfns, Autosomal Recessive 58

Characteristics:

OMIM:

58
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:

33
seizures, benign familial neonatal, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 269720
MedGen 43 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

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 hypertonia 33 HP:0001276
2 generalized tonic-clonic seizures 33 HP:0002069
3 normal interictal eeg 33 HP:0002372

Symptoms via clinical synopsis from OMIM:

58
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

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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