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

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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 ⁵⁸ ¹⁷

Lethal Neonatal Rigidity-Multifocal Seizure Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ³³

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Other generalized epilepsy and epileptic syndromes

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³³ G40.4

Orphanet ⁵⁸ ORPHA435845

EFO ¹⁷ EFO_0009144

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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).

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Related Diseases for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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Symptoms & Phenotypes for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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Drugs & Therapeutics for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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

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Genetic Tests for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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Anatomical Context for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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

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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 ⁵⁸

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Variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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Expression for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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

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Pathways for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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GO Terms for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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