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

MCID: LTH036 MIFTS: 6	Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome Categories: Neuronal diseases, Rare diseases
Genes Variations Expand all tables

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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 ⁶⁰ ¹⁷

Syndrome, Rigidity and Multifocal Seizure, Lethal Neonatal ⁴¹

Lethal Neonatal Rigidity-Multifocal Seizure Syndrome ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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: ³⁵

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Other generalized epilepsy and epileptic syndromes

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

ICD10 via Orphanet ³⁵ G40.4

Orphanet ⁶⁰ 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 syndrome, rigidity and multifocal seizure, lethal neonatal. 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

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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	750	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁶⁰

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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 363)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRAT1	NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs)	duplication	Pathogenic	rs730880324	GRCh37	Chromosome 7, 2583389: 2583389
2	BRAT1	NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs)	duplication	Pathogenic	rs730880324	GRCh38	Chromosome 7, 2543755: 2543755
3	BRAT1	NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs)	insertion	Pathogenic	rs1554296088	GRCh38	Chromosome 7, 2543939: 2543940
4	BRAT1	NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs)	insertion	Pathogenic	rs1554296088	GRCh37	Chromosome 7, 2583573: 2583574
5	BRAT1	NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro)	single nucleotide variant	Pathogenic	rs727505363	GRCh37	Chromosome 7, 2587064: 2587064
6	BRAT1	NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro)	single nucleotide variant	Pathogenic	rs727505363	GRCh38	Chromosome 7, 2547430: 2547430
7	BRAT1	NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs)	deletion	Pathogenic	rs727505364	GRCh37	Chromosome 7, 2581806: 2581807
8	BRAT1	NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs)	deletion	Pathogenic	rs727505364	GRCh38	Chromosome 7, 2542172: 2542173
9	BRAT1	NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs)	deletion	Pathogenic	rs727505365	GRCh37	Chromosome 7, 2581076: 2581076
10	BRAT1	NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs)	deletion	Pathogenic	rs727505365	GRCh38	Chromosome 7, 2541442: 2541442
11	BRAT1	NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter)	single nucleotide variant	Pathogenic	rs794729222	GRCh37	Chromosome 7, 2578312: 2578312
12	BRAT1	NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter)	single nucleotide variant	Pathogenic	rs794729222	GRCh38	Chromosome 7, 2538678: 2538678
13	BRAT1	NM_152743.3(BRAT1): c.866G> C (p.Cys289Ser)	single nucleotide variant	Benign/Likely benign	rs140451075	GRCh37	Chromosome 7, 2582895: 2582895
14	BRAT1	NM_152743.3(BRAT1): c.866G> C (p.Cys289Ser)	single nucleotide variant	Benign/Likely benign	rs140451075	GRCh38	Chromosome 7, 2543261: 2543261
15	BRAT1	NM_152743.3(BRAT1): c.1825C> T (p.Arg609Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs886039312	GRCh37	Chromosome 7, 2578344: 2578344
16	BRAT1	NM_152743.3(BRAT1): c.1825C> T (p.Arg609Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs886039312	GRCh38	Chromosome 7, 2538710: 2538710
17	BRAT1	NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs)	duplication	Pathogenic	rs776913277	GRCh37	Chromosome 7, 2584679: 2584679
18	BRAT1	NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs)	duplication	Pathogenic	rs776913277	GRCh38	Chromosome 7, 2545045: 2545045
19	BRAT1	NM_152743.3(BRAT1): c.2125_2128delTTTG (p.Phe709Thrfs)	deletion	Conflicting interpretations of pathogenicity	rs763527391	GRCh37	Chromosome 7, 2578041: 2578044
20	BRAT1	NM_152743.3(BRAT1): c.2125_2128delTTTG (p.Phe709Thrfs)	deletion	Conflicting interpretations of pathogenicity	rs763527391	GRCh38	Chromosome 7, 2538407: 2538410
21	BRAT1	NM_152743.3(BRAT1): c.962T> G (p.Leu321Arg)	single nucleotide variant	Benign/Likely benign	rs150942467	GRCh37	Chromosome 7, 2581807: 2581807
22	BRAT1	NM_152743.3(BRAT1): c.962T> G (p.Leu321Arg)	single nucleotide variant	Benign/Likely benign	rs150942467	GRCh38	Chromosome 7, 2542173: 2542173
23	BRAT1	NM_152743.3(BRAT1): c.2041G> A (p.Glu681Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145833100	GRCh37	Chromosome 7, 2578128: 2578128
24	BRAT1	NM_152743.3(BRAT1): c.2041G> A (p.Glu681Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145833100	GRCh38	Chromosome 7, 2538494: 2538494
25	BRAT1	NM_152743.3(BRAT1): c.419T> C (p.Leu140Pro)	single nucleotide variant	Likely pathogenic	rs1085307958	GRCh37	Chromosome 7, 2584554: 2584554
26	BRAT1	NM_152743.3(BRAT1): c.419T> C (p.Leu140Pro)	single nucleotide variant	Likely pathogenic	rs1085307958	GRCh38	Chromosome 7, 2544920: 2544920
27	BRAT1	NM_152743.3(BRAT1): c.803G> A (p.Arg268His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1131691679	GRCh37	Chromosome 7, 2583224: 2583224
28	BRAT1	NM_152743.3(BRAT1): c.803G> A (p.Arg268His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs1131691679	GRCh38	Chromosome 7, 2543590: 2543590
29	BRAT1	NM_152743.3(BRAT1): c.1884C> T (p.Ala628=)	single nucleotide variant	Benign	rs142346283	GRCh38	Chromosome 7, 2538651: 2538651
30	BRAT1	NM_152743.3(BRAT1): c.1884C> T (p.Ala628=)	single nucleotide variant	Benign	rs142346283	GRCh37	Chromosome 7, 2578285: 2578285
31	BRAT1	NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter)	single nucleotide variant	Pathogenic	rs1554295159	GRCh37	Chromosome 7, 2581805: 2581805
32	BRAT1	NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter)	single nucleotide variant	Pathogenic	rs1554295159	GRCh38	Chromosome 7, 2542171: 2542171
33	BRAT1	NM_152743.3(BRAT1): c.675C> T (p.Phe225=)	single nucleotide variant	Benign	rs139443843	GRCh38	Chromosome 7, 2543718: 2543718
34	BRAT1	NM_152743.3(BRAT1): c.675C> T (p.Phe225=)	single nucleotide variant	Benign	rs139443843	GRCh37	Chromosome 7, 2583352: 2583352
35	BRAT1	NM_152743.3(BRAT1): c.1879G> A (p.Ala627Thr)	single nucleotide variant	Uncertain significance	rs750400556	GRCh37	Chromosome 7, 2578290: 2578290
36	BRAT1	NM_152743.3(BRAT1): c.1879G> A (p.Ala627Thr)	single nucleotide variant	Uncertain significance	rs750400556	GRCh38	Chromosome 7, 2538656: 2538656
37	BRAT1	NM_152743.3(BRAT1): c.1867G> A (p.Gly623Ser)	single nucleotide variant	Benign/Likely benign	rs77015302	GRCh37	Chromosome 7, 2578302: 2578302
38	BRAT1	NM_152743.3(BRAT1): c.1867G> A (p.Gly623Ser)	single nucleotide variant	Benign/Likely benign	rs77015302	GRCh38	Chromosome 7, 2538668: 2538668
39	BRAT1	NM_152743.3(BRAT1): c.1135-8C> A	single nucleotide variant	Benign/Likely benign	rs113613637	GRCh37	Chromosome 7, 2581126: 2581126
40	BRAT1	NM_152743.3(BRAT1): c.1135-8C> A	single nucleotide variant	Benign/Likely benign	rs113613637	GRCh38	Chromosome 7, 2541492: 2541492
41	BRAT1	NM_152743.3(BRAT1): c.2353C> T (p.Arg785Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61729932	GRCh37	Chromosome 7, 2577816: 2577816
42	BRAT1	NM_152743.3(BRAT1): c.2353C> T (p.Arg785Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61729932	GRCh38	Chromosome 7, 2538182: 2538182
43	BRAT1	NM_152743.3(BRAT1): c.2209C> T (p.Arg737Trp)	single nucleotide variant	Benign	rs60152725	GRCh38	Chromosome 7, 2538326: 2538326
44	BRAT1	NM_152743.3(BRAT1): c.2209C> T (p.Arg737Trp)	single nucleotide variant	Benign	rs60152725	GRCh37	Chromosome 7, 2577960: 2577960
45	BRAT1	NM_152743.3(BRAT1): c.1931_1932delGAinsAG (p.Arg644Gln)	indel	Benign	rs71531463	GRCh38	Chromosome 7, 2538603: 2538604
46	BRAT1	NM_152743.3(BRAT1): c.1931_1932delGAinsAG (p.Arg644Gln)	indel	Benign	rs71531463	GRCh37	Chromosome 7, 2578237: 2578238
47	BRAT1	NM_152743.3(BRAT1): c.1828C> T (p.Arg610Trp)	single nucleotide variant	Uncertain significance	rs61753094	GRCh37	Chromosome 7, 2578341: 2578341
48	BRAT1	NM_152743.3(BRAT1): c.1828C> T (p.Arg610Trp)	single nucleotide variant	Uncertain significance	rs61753094	GRCh38	Chromosome 7, 2538707: 2538707
49	BRAT1	NM_152743.3(BRAT1): c.1206C> T (p.Asp402=)	single nucleotide variant	Benign	rs7807895	GRCh37	Chromosome 7, 2581047: 2581047
50	BRAT1	NM_152743.3(BRAT1): c.1206C> T (p.Asp402=)	single nucleotide variant	Benign	rs7807895	GRCh38	Chromosome 7, 2541413: 2541413

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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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