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

Orphanet: ⁵⁸ A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood.

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:

(show all 15)

#	Title	Authors	PMID	Year
1	Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study. ⁵	Stodberg T...Wedell A	32964447	2020
2	BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. ⁵	Scheffer IE...Mefford HC	31868227	2020
3	The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. ⁵	Burgess R...Scheffer IE	31618474	2019
4	BRAT1 mutations present with a spectrum of clinical severity. ⁵	Srivastava S...Naidu S	27282546	2016
5	BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. ⁵	Horn D...Zemojtel T	27282648	2016
6	Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient. ⁵	Fernandez-Jaen A...Calleja-Perez B	26947546	2016
7	BRAT1-related disease--identification of a patient without early lethality. ⁵	Mundy SA...Shen JJ	26494257	2016
8	Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder? ⁵	Hanes I...Callen DJ	26483087	2015
9	Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. ⁵	van de Pol LA...van der Knaap MS	26535877	2015
10	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ⁵	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
11	Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. ⁵	Straussberg R...Basel-Vanagaite L	25500575	2015
12	Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. ⁵	Saitsu H...Matsumoto N	25319849	2014
13	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. ⁵	Saunders CJ...Kingsmore SF	23035047	2012
14	Genetic mapping and exome sequencing identify variants associated with five novel diseases. ⁵	Puffenberger EG...Strauss KA	22279524	2012
15	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005

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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	PubMed IDs
1	BRAT1	BRCA1 Associated ATM Activator 1	Protein Coding	775	Pathogenic ⁵ Causative germline mutation ⁵⁸ Likely pathogenic ⁵	16199547 22279524 23035047 (more) 25319849 25500575 25741868 26483087 26494257 26535877 26947546 27282546 27282648 31618474 31868227 32964447

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Variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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

⁵ (show top 50) (show all 807)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	BRAT1	NC_000007.14:g.(?_2544889)_(2554451_?)del	DEL	Pathogenic	472924		GRCh37: 7:2584523-2594085 GRCh38: 7:2544889-2554451
2	BRAT1	NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)	DEL	Pathogenic	472936	rs749240175	GRCh37: 7:2580939-2580940 GRCh38: 7:2541305-2541306
3	BRAT1	NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter)	SNV	Pathogenic	573854	rs1562596651	GRCh37: 7:2593961-2593961 GRCh38: 7:2554327-2554327
4	BRAT1	NM_152743.4(BRAT1):c.803G>A (p.Arg268His)	SNV	Pathogenic	429928	rs1131691679	GRCh37: 7:2583224-2583224 GRCh38: 7:2543590-2543590
5	BRAT1	NM_152743.4(BRAT1):c.171del (p.Glu57fs)	DEL	Pathogenic	559429	rs1554297097	GRCh37: 7:2587069-2587069 GRCh38: 7:2547435-2547435
6	BRAT1	NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)	SNV	Pathogenic	427101	rs1085307958	GRCh37: 7:2584554-2584554 GRCh38: 7:2544920-2544920
7	BRAT1	NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs)	INSERT	Pathogenic	180136	rs1554296088	GRCh37: 7:2583573-2583574 GRCh38: 7:2543939-2543940
8	BRAT1	NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro)	SNV	Pathogenic	180137	rs727505363	GRCh37: 7:2587064-2587064 GRCh38: 7:2547430-2547430
9	BRAT1	NM_152743.4(BRAT1):c.962_963del (p.Leu321fs)	MICROSAT	Pathogenic	180138	rs727505364	GRCh37: 7:2581806-2581807 GRCh38: 7:2542172-2542173
10	BRAT1	NM_152743.4(BRAT1):c.1177del (p.Ala393fs)	DEL	Pathogenic	180139	rs727505365	GRCh37: 7:2581076-2581076 GRCh38: 7:2541442-2541442
11	BRAT1	NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter)	SNV	Pathogenic	434520	rs1554295159	GRCh37: 7:2581805-2581805 GRCh38: 7:2542171-2542171
12	BRAT1	NM_152743.4(BRAT1):c.1013dup (p.Gly339fs)	DUP	Pathogenic	647546	rs754341393	GRCh37: 7:2581755-2581756 GRCh38: 7:2542121-2542122
13	BRAT1	NC_000007.14:g.(?_2554285)_(2554451_?)del	DEL	Pathogenic	647953		GRCh37: 7:2593919-2594085 GRCh38: 7:2554285-2554451
14	BRAT1	NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs)	INDEL	Pathogenic	540176	rs1554293869	GRCh37: 7:2579211-2579232 GRCh38: 7:2539577-2539598
15	BRAT1	NC_000007.14:g.(?_2554305)_(2554431_?)del	DEL	Pathogenic	651803		GRCh37: 7:2593939-2594065 GRCh38: 7:2554305-2554431
16	BRAT1	NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter)	SNV	Pathogenic	661637	rs759216914	GRCh37: 7:2578899-2578899 GRCh38: 7:2539265-2539265
17	BRAT1	NM_152743.4(BRAT1):c.398_405del (p.His133fs)	DEL	Pathogenic	842737	rs760389988	GRCh37: 7:2584568-2584575 GRCh38: 7:2544934-2544941
18	BRAT1	NM_152743.4(BRAT1):c.1492del (p.Leu498fs)	DEL	Pathogenic	848367	rs1779001773	GRCh37: 7:2579426-2579426 GRCh38: 7:2539792-2539792
19	BRAT1	NM_152743.4(BRAT1):c.1499-1G>T	SNV	Pathogenic	872930	rs1778987915	GRCh37: 7:2579277-2579277 GRCh38: 7:2539643-2539643
20	BRAT1	NM_152743.4(BRAT1):c.617T>A (p.Leu206Ter)	SNV	Pathogenic	1031685	rs762469913	GRCh37: 7:2583410-2583410 GRCh38: 7:2543776-2543776
21	BRAT1	NM_152743.4(BRAT1):c.1711C>T (p.Gln571Ter)	SNV	Pathogenic	1377471		GRCh37: 7:2578872-2578872 GRCh38: 7:2539238-2539238
22	BRAT1	NM_152743.4(BRAT1):c.920del (p.His307fs)	DEL	Pathogenic	1458549		GRCh37: 7:2582841-2582841 GRCh38: 7:2543207-2543207
23	BRAT1	NM_152743.4(BRAT1):c.2284C>T (p.Gln762Ter)	SNV	Pathogenic	1458796		GRCh37: 7:2577885-2577885 GRCh38: 7:2538251-2538251
24	BRAT1	NM_152743.4(BRAT1):c.1590del (p.Trp531fs)	DEL	Pathogenic	1452250		GRCh37: 7:2579185-2579185 GRCh38: 7:2539551-2539551
25	BRAT1	NM_152743.4(BRAT1):c.1007del (p.Gly336fs)	DEL	Pathogenic	1453640		GRCh37: 7:2581762-2581762 GRCh38: 7:2542128-2542128
26	BRAT1	NC_000007.13:g.(?_2584533)_(2594065_?)del	DEL	Pathogenic	1069574		GRCh37: 7:2584533-2594065 GRCh38:
27	overlap with 2 genes	NC_000007.13:g.(?_2559496)_(2594065_?)del	DEL	Pathogenic	1073449		GRCh37: 7:2559496-2594065 GRCh38:
28	BRAT1	NM_152743.4(BRAT1):c.1203_1204del (p.Cys401_Asp402delinsTer)	MICROSAT	Pathogenic	426933	rs773772842	GRCh37: 7:2581049-2581050 GRCh38: 7:2541415-2541416
29	BRAT1	NM_152743.4(BRAT1):c.1083_1095del (p.Gly363fs)	DEL	Pathogenic	1356724		GRCh37: 7:2581391-2581403 GRCh38: 7:2541757-2541769
30	BRAT1	NM_152743.4(BRAT1):c.34del (p.Leu12fs)	DEL	Pathogenic	1393495		GRCh37: 7:2594032-2594032 GRCh38: 7:2554398-2554398
31	BRAT1	NC_000007.14:g.(?_2538049)_(2539371_?)del	DEL	Pathogenic	833357		GRCh37: 7:2577683-2579005 GRCh38:
32	BRAT1	NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter)	SNV	Pathogenic	944680	rs1778980785	GRCh37: 7:2579199-2579199 GRCh38: 7:2539565-2539565
33	BRAT1	NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter)	SNV	Pathogenic	1070797		GRCh37: 7:2578815-2578815 GRCh38: 7:2539181-2539181
34	BRAT1	NM_152743.4(BRAT1):c.2023del (p.Tyr675fs)	DEL	Pathogenic	1072484		GRCh37: 7:2578146-2578146 GRCh38: 7:2538512-2538512
35	BRAT1	NM_152743.4(BRAT1):c.1823del (p.Pro608fs)	DEL	Pathogenic	1074999		GRCh37: 7:2578346-2578346 GRCh38: 7:2538712-2538712
36	BRAT1	NM_152743.4(BRAT1):c.1996_1997del (p.Leu666fs)	DEL	Pathogenic	1324687		GRCh37: 7:2578172-2578173 GRCh38: 7:2538538-2538539
37	BRAT1	NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)	SNV	Pathogenic	202197	rs794729222	GRCh37: 7:2578312-2578312 GRCh38: 7:2538678-2538678
38	BRAT1	NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)	MICROSAT	Pathogenic	1073760		GRCh37: 7:2583573-2583574 GRCh38: 7:2543939-2543940
39	BRAT1	NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)	DEL	Pathogenic	372962	rs763527391	GRCh37: 7:2578041-2578044 GRCh38: 7:2538407-2538410
40	BRAT1	NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	DUP	Pathogenic	279703	rs776913277	GRCh37: 7:2584678-2584679 GRCh38: 7:2545044-2545045
41	BRAT1	NM_152743.4(BRAT1):c.638dup (p.Val214fs)	DUP	Pathogenic	31199	rs730880324	GRCh37: 7:2583388-2583389 GRCh38: 7:2543754-2543755
42	BRAT1	NM_152743.4(BRAT1):c.1371_1395+16del	DEL	Pathogenic/Likely Pathogenic	654304	rs1224820591	GRCh37: 7:2580597-2580637 GRCh38: 7:2540963-2541003
43	BRAT1	NM_152743.4(BRAT1):c.1395+2T>A	SNV	Likely Pathogenic	848333	rs1779105755	GRCh37: 7:2580611-2580611 GRCh38: 7:2540977-2540977
44	BRAT1	NM_152743.4(BRAT1):c.1710del (p.Gln571fs)	DEL	Likely Pathogenic	817329	rs756489141	GRCh37: 7:2578873-2578873 GRCh38: 7:2539239-2539239
45	BRAT1	NM_152743.4(BRAT1):c.1322-2A>G	SNV	Likely Pathogenic	1491569		GRCh37: 7:2580688-2580688 GRCh38: 7:2541054-2541054
46	BRAT1	NM_152743.4(BRAT1):c.283-2A>T	SNV	Likely Pathogenic	650471	rs147005619	GRCh37: 7:2584692-2584692 GRCh38: 7:2545058-2545058
47	BRAT1	NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln)	SNV	Conflicting Interpretations Of Pathogenicity	540162	rs371360176	GRCh37: 7:2581057-2581057 GRCh38: 7:2541423-2541423
48	BRAT1	NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup)	DUP	Conflicting Interpretations Of Pathogenicity	665075	rs1562582216	GRCh37: 7:2584550-2584551 GRCh38: 7:2544916-2544917
49	BRAT1	NM_152743.4(BRAT1):c.2291dup (p.Gly765fs)	DUP	Uncertain Significance	665862	rs1463777746	GRCh37: 7:2577877-2577878 GRCh38: 7:2538243-2538244
50	BRAT1	NC_000007.14:g.(?_2544889)_(2554451_?)dup	DUP	Uncertain Significance	830572		GRCh37: 7:2584523-2594085 GRCh38:

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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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MCID: LTH036 MIFTS: 18	Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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