MCID: LTH036
MIFTS: 9

Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

MalaCards integrated aliases for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome:

Name: Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 59 17
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
lethal neonatal spasticity-epileptic encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G40.4
Orphanet 59 ORPHA435845

Summaries for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

MalaCards based summary : Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome, is also known as lethal neonatal rigidity-multifocal seizure syndrome. An important gene associated with Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome is BRAT1 (BRCA1 Associated ATM Activator 1).

Related Diseases for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Symptoms & Phenotypes for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Drugs & Therapeutics for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Search Clinical Trials , NIH Clinical Center for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Genetic Tests for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Anatomical Context for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Publications for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Articles related to Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome:

# Title Authors PMID Year
1
BRAT1 mutations present with a spectrum of clinical severity. 71
27282546 2016
2
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 71
26535877 2015
3
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 71
25500575 2015
4
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. 71
25319849 2014
5
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 71
23035047 2012
6
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 71
22279524 2012

Variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Expression for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Search GEO for disease gene expression data for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome.

Pathways for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

GO Terms for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

3 CDC
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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
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51 NDF-RT
54 NINDS
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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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