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

MCID: LTH036 MIFTS: 15	Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome Categories: Neuronal diseases, Rare diseases
Genes Variations Publications Expand all tables

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 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

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. 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

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	750	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸	23035047 25319849 22279524 (more) 26535877 27282546 25500575

Sources

Variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

ClinVar genetic disease variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome:

⁶ (show top 50) (show all 317) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	BRAT1	NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter)	SNV	Pathogenic	434520	rs1554295159	7:2581805-2581805	7:2542171-2542171
2	BRAT1	NC_000007.14:g.(?_2544889)_(2554451_?)del	deletion	Pathogenic	472924			7:2544889-2554451
3	BRAT1	NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)	deletion	Pathogenic	472936	rs749240175	7:2580939-2580940	7:2541305-2541306
4	BRAT1	NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs)	indel	Pathogenic	540176	rs1554293869	7:2579211-2579232	7:2539577-2539598
5	BRAT1	NM_152743.4(BRAT1):c.171del (p.Glu57fs)	deletion	Pathogenic	559429	rs1554297097	7:2587069-2587069	7:2547435-2547435
6	BRAT1	NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter)	SNV	Pathogenic	573854	rs1562596651	7:2593961-2593961	7:2554327-2554327
7	BRAT1	NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter)	SNV	Pathogenic	661637		7:2578899-2578899	7:2539265-2539265
8	BRAT1	NM_152743.4(BRAT1):c.1013dup (p.Gly339fs)	duplication	Pathogenic	647546		7:2581755-2581756	7:2542121-2542122
9	BRAT1	NC_000007.14:g.(?_2554305)_(2554431_?)del	deletion	Pathogenic	651803		7:2593939-2594065	7:2554305-2554431
10	BRAT1	NC_000007.14:g.(?_2554285)_(2554451_?)del	deletion	Pathogenic	647953		7:2593919-2594085	7:2554285-2554451
11	BRAT1	NC_000007.14:g.(?_2538049)_(2539371_?)del	deletion	Pathogenic	833357		7:2577683-2579005
12	BRAT1	NM_152743.4(BRAT1):c.1492del (p.Leu498fs)	deletion	Pathogenic	848367		7:2579426-2579426	7:2539792-2539792
13	BRAT1	NM_152743.4(BRAT1):c.398_405del (p.His133fs)	deletion	Pathogenic	842737		7:2584568-2584575	7:2544934-2544941
14	BRAT1	NM_152743.4(BRAT1):c.638dup (p.Val214fs)	duplication	Pathogenic	31199	rs730880324	7:2583388-2583389	7:2543754-2543755
15	BRAT1	NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs)	insertion	Pathogenic	180136	rs1554296088	7:2583573-2583574	7:2543939-2543940
16	BRAT1	NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro)	SNV	Pathogenic	180137	rs727505363	7:2587064-2587064	7:2547430-2547430
17	BRAT1	NM_152743.4(BRAT1):c.960_961TC[1] (p.Leu321fs)	short repeat	Pathogenic	180138	rs727505364	7:2581806-2581807	7:2542172-2542173
18	BRAT1	NM_152743.4(BRAT1):c.1177del (p.Ala393fs)	deletion	Pathogenic	180139	rs727505365	7:2581076-2581076	7:2541442-2541442
19	BRAT1	NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)	SNV	Pathogenic	202197	rs794729222	7:2578312-2578312	7:2538678-2538678
20	BRAT1	NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	duplication	Pathogenic	279703	rs776913277	7:2584678-2584679	7:2545044-2545045
21	BRAT1	NM_152743.4(BRAT1):c.803G>A (p.Arg268His)	SNV	Pathogenic/Likely pathogenic	429928	rs1131691679	7:2583224-2583224	7:2543590-2543590
22	BRAT1	NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)	SNV	Likely pathogenic	427101	rs1085307958	7:2584554-2584554	7:2544920-2544920
23	BRAT1	NM_152743.4(BRAT1):c.283-2A>T	SNV	Likely pathogenic	650471		7:2584692-2584692	7:2545058-2545058
24	BRAT1	NM_152743.4(BRAT1):c.1395+2T>A	SNV	Likely pathogenic	848333		7:2580611-2580611	7:2540977-2540977
25	BRAT1	NM_152743.4(BRAT1):c.1371_1395+16del	deletion	Likely pathogenic	654304		7:2580597-2580637	7:2540963-2541003
26	BRAT1	NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)	SNV	Conflicting interpretations of pathogenicity	265048	rs886039312	7:2578344-2578344	7:2538710-2538710
27	BRAT1	NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)	deletion	Conflicting interpretations of pathogenicity	372962	rs763527391	7:2578041-2578044	7:2538407-2538410
28	BRAT1	NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)	SNV	Conflicting interpretations of pathogenicity	377362	rs145833100	7:2578128-2578128	7:2538494-2538494
29	BRAT1	NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)	SNV	Conflicting interpretations of pathogenicity	449963	rs200502048	7:2578244-2578244	7:2538610-2538610
30	BRAT1	NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)	SNV	Conflicting interpretations of pathogenicity	445886	rs61729932	7:2577816-2577816	7:2538182-2538182
31	BRAT1	NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)	SNV	Conflicting interpretations of pathogenicity	446895	rs61753094	7:2578341-2578341	7:2538707-2538707
32	BRAT1	NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)	SNV	Conflicting interpretations of pathogenicity	472946	rs147745609	7:2579268-2579268	7:2539634-2539634
33	BRAT1	NM_152743.4(BRAT1):c.434C>T (p.Ala145Val)	SNV	Conflicting interpretations of pathogenicity	540180	rs140833277	7:2583593-2583593	7:2543959-2543959
34	BRAT1	NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)	SNV	Uncertain significance	540171	rs773571503	7:2577840-2577840	7:2538206-2538206
35	BRAT1	NM_152743.4(BRAT1):c.1067C>T (p.Ala356Val)	SNV	Uncertain significance	540150	rs912690370	7:2581419-2581419	7:2541785-2541785
36	BRAT1	NM_152743.4(BRAT1):c.883A>G (p.Met295Val)	SNV	Uncertain significance	540153	rs151317339	7:2582878-2582878	7:2543244-2543244
37	BRAT1	NM_152743.4(BRAT1):c.2170C>G (p.Leu724Val)	SNV	Uncertain significance	472962	rs751042897	7:2577999-2577999	7:2538365-2538365
38	BRAT1	NM_152743.4(BRAT1):c.511G>C (p.Val171Leu)	SNV	Uncertain significance	472970	rs769663853	7:2583516-2583516	7:2543882-2543882
39	BRAT1	NM_152743.4(BRAT1):c.1804G>A (p.Val602Ile)	SNV	Uncertain significance	540177	rs532881368	7:2578365-2578365	7:2538731-2538731
40	BRAT1	NM_152743.4(BRAT1):c.1472G>C (p.Gly491Ala)	SNV	Uncertain significance	540167	rs762040027	7:2579446-2579446	7:2539812-2539812
41	BRAT1	NM_152743.4(BRAT1):c.1351G>T (p.Ala451Ser)	SNV	Uncertain significance	540160	rs138276986	7:2580657-2580657	7:2541023-2541023
42	BRAT1	NM_152743.4(BRAT1):c.1395+5G>A	SNV	Uncertain significance	540170	rs778208704	7:2580608-2580608	7:2540974-2540974
43	BRAT1	NM_152743.4(BRAT1):c.1384T>C (p.Ser462Pro)	SNV	Uncertain significance	540157	rs761704986	7:2580624-2580624	7:2540990-2540990
44	BRAT1	NM_152743.4(BRAT1):c.2068G>A (p.Glu690Lys)	SNV	Uncertain significance	540168	rs745828770	7:2578101-2578101	7:2538467-2538467
45	BRAT1	NM_152743.4(BRAT1):c.1498G>C (p.Glu500Gln)	SNV	Uncertain significance	540161	rs1554293972	7:2579420-2579420	7:2539786-2539786
46	BRAT1	NM_152743.4(BRAT1):c.871G>A (p.Gly291Ser)	SNV	Uncertain significance	540156	rs764583480	7:2582890-2582890	7:2543256-2543256
47	BRAT1	NM_152743.4(BRAT1):c.32C>A (p.Ala11Asp)	SNV	Uncertain significance	540166	rs768798947	7:2594034-2594034	7:2554400-2554400
48	BRAT1	NM_152743.4(BRAT1):c.2377G>A (p.Asp793Asn)	SNV	Uncertain significance	540149	rs759036645	7:2577792-2577792	7:2538158-2538158
49	BRAT1	NM_152743.4(BRAT1):c.2240C>T (p.Ser747Phe)	SNV	Uncertain significance	540164	rs923807425	7:2577929-2577929	7:2538295-2538295
50	BRAT1	NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)	SNV	Uncertain significance	540163	rs140802292	7:2578022-2578022	7:2538388-2538388

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia