Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Other generalized epilepsy and epileptic syndromes

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁴ G40.4

Orphanet ⁵⁹ ORPHA435845

EFO ¹⁷ EFO_0009144

Sources

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).

Sources

Related Diseases for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources

Symptoms & Phenotypes for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources

Drugs & Therapeutics for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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

Sources

Genetic Tests for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources

Anatomical Context for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources

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	Srivastava S...Naidu S	27282546	2016
2	Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. ⁷¹	van de Pol LA...van der Knaap MS	26535877	2015
3	Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. ⁷¹	Straussberg R...Basel-Vanagaite L	25500575	2015
4	Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. ⁷¹	Saitsu H...Matsumoto N	25319849	2014
5	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. ⁷¹	Saunders CJ...Kingsmore SF	23035047	2012
6	Genetic mapping and exome sequencing identify variants associated with five novel diseases. ⁷¹	Puffenberger EG...Strauss KA	22279524	2012

Sources

Genes for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Genes related to Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BRAT1	BRCA1 Associated ATM Activator 1	Protein Coding	350	Causative germline mutation ⁵⁹

Sources

Variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources

Expression for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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

Sources

Pathways for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources

GO Terms for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources

Sources for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia