MCID: LTH036
MIFTS: 18

Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Categories: Neuronal diseases, Rare diseases
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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 5 16
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 58

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 32 G40.4
Orphanet 58 ORPHA435845

Summaries for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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).

Related Diseases for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Symptoms & Phenotypes for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Drugs & Therapeutics for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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

Genetic Tests for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Anatomical Context for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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
32964447 2020
2
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. 5
31868227 2020
3
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. 5
31618474 2019
4
BRAT1 mutations present with a spectrum of clinical severity. 5
27282546 2016
5
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. 5
27282648 2016
6
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient. 5
26947546 2016
7
BRAT1-related disease--identification of a patient without early lethality. 5
26494257 2016
8
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder? 5
26483087 2015
9
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 5
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
25741868 2015
11
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 5
25500575 2015
12
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. 5
25319849 2014
13
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 5
23035047 2012
14
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 5
22279524 2012
15
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005

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:

Expression for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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Sources for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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