MCID: RGD002
MIFTS: 31

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

MalaCards integrated aliases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

Name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 57 75 29 13 6 40 73
Rmfsl 57 75
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 59
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 59
Muscle Rigidity 44

Characteristics:

Orphanet epidemiological data:

59
lethal neonatal spasticity-epileptic encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Miscellaneous:
death in infancy
onset at or soon after birth

Inheritance:
autosomal recessive


HPO:

32
rigidity and multifocal seizure syndrome, lethal neonatal:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

UniProtKB/Swiss-Prot : 75 Rigidity and multifocal seizure syndrome, lethal neonatal: A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life.

MalaCards based summary : Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal, also known as rmfsl, is related to malignant hyperthermia and malignant hyperthermia 1, and has symptoms including apnea, clonus and myoclonic seizures. An important gene associated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal is BRAT1 (BRCA1 Associated ATM Activator 1). Affiliated tissues include bone, tongue and cortex, and related phenotypes are progressive microcephaly and micrognathia

OMIM : 57 Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014). (614498)

Related Diseases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Graphical network of the top 20 diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:



Diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Symptoms & Phenotypes for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
clonus
dysautonomia
hypertonia
extensor plantar responses
more
Cardiovascular Heart:
bradycardia

Head And Neck Face:
micrognathia (in some patients)

Head And Neck Eyes:
optic atrophy (1 family)

Prenatal Manifestations Movement:
episodic myoclonic spasms

Respiratory:
apnea

Skeletal:
joint contractures

Head And Neck Head:
microcephaly, progressive
small head (-1.5 to 2 sd)

Skeletal Skull:
small or absent fontanels
depressed frontal bones
overlapping cranial sutures


Clinical features from OMIM:

614498

Human phenotypes related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 micrognathia 32 occasional (7.5%) HP:0000347
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 global developmental delay 32 HP:0001263
5 hypertonia 32 HP:0001276
6 flexion contracture 32 HP:0001371
7 bradycardia 32 HP:0001662
8 rigidity 32 HP:0002063
9 apnea 32 HP:0002104
10 generalized myoclonic seizures 32 HP:0002123
11 clonus 32 HP:0002169
12 gliosis 32 HP:0002171
13 dysautonomia 32 HP:0002459
14 neuronal loss in central nervous system 32 HP:0002529
15 babinski sign 32 HP:0003487
16 myoclonic spasms 32 HP:0003739
17 delayed myelination 32 occasional (7.5%) HP:0012448
18 multifocal seizures 32 HP:0031165

UMLS symptoms related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:


apnea, clonus, myoclonic seizures

Drugs & Therapeutics for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Search Clinical Trials , NIH Clinical Center for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Cochrane evidence based reviews: muscle rigidity

Genetic Tests for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Genetic tests related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

# Genetic test Affiliating Genes
1 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 29 BRAT1

Anatomical Context for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

MalaCards organs/tissues related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

41
Bone, Tongue, Cortex, Cerebellum

Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Articles related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

(show all 16)
# Title Authors Year
1
Propofol Reduces Succinylcholine-induced Muscle Rigidity in a Patient with Paramyotonia Congenita. ( 28298805 )
2017
2
Temporal changes in serum creatine kinase concentration and degree of muscle rigidity in 24 patients with neuroleptic malignant syndrome. ( 23818785 )
2013
3
Elevated creatine kinase does not necessarily correspond temporally with onset of muscle rigidity in neuroleptic malignant syndrome: a report of two cases. ( 23271911 )
2012
4
Serotonin syndrome-muscle rigidity and confusion in the older adult. ( 22079646 )
2012
5
Masseter muscle rigidity: Atypical malignant hyperthermia presentation or isolated event? ( 21189861 )
2010
6
Imidazoline I(1) receptor-mediated reduction of muscle rigidity in the reserpine-treated murine model of Parkinson's disease. ( 18602099 )
2008
7
The effects of olanzapine and fluphenazine on plasma cortisol, prolactin and muscle rigidity in schizophrenic patients: a double blind study. ( 17126974 )
2007
8
Raclopride and chlorpromazine, but not clozapine, increase muscle rigidity in the rat: relationship with D2 dopamine receptor occupancy. ( 10379524 )
1999
9
Masseter muscle rigidity associated with glycine1306-to-alanine mutation in the adult muscle sodium channel alpha-subunit gene. ( 7741283 )
1995
10
The incidence of masseter muscle rigidity after succinylcholine in infants and children. ( 8069986 )
1994
11
Muscle rigidity in meningococcal meningitis. ( 8017607 )
1994
12
Masseter muscle rigidity and malignant hyperthermia susceptibility in pediatric patients. An update on management and diagnosis. ( 8010468 )
1994
13
Muscle rigidity in meningococcal meningitis. ( 8285338 )
1993
14
Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon syndrome. ( 1519800 )
1992
15
Malignant hyperthermia susceptibility in adult patients with masseter muscle rigidity. ( 2295104 )
1990
16
Masseter muscle rigidity and malignant hyperthermia susceptibility. ( 3942303 )
1986

Variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

ClinVar genetic disease variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

6
(show top 50) (show all 269)
# 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 rs727505362 GRCh38 Chromosome 7, 2543939: 2543940
4 BRAT1 NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs) insertion Pathogenic rs727505362 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.803G> A (p.Arg268His) single nucleotide variant Pathogenic/Likely pathogenic rs1131691679 GRCh37 Chromosome 7, 2583224: 2583224
26 BRAT1 NM_152743.3(BRAT1): c.803G> A (p.Arg268His) single nucleotide variant Pathogenic/Likely pathogenic rs1131691679 GRCh38 Chromosome 7, 2543590: 2543590
27 BRAT1 NM_152743.3(BRAT1): c.1884C> T (p.Ala628=) single nucleotide variant Benign rs142346283 GRCh37 Chromosome 7, 2578285: 2578285
28 BRAT1 NM_152743.3(BRAT1): c.1884C> T (p.Ala628=) single nucleotide variant Benign rs142346283 GRCh38 Chromosome 7, 2538651: 2538651
29 BRAT1 NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 2581805: 2581805
30 BRAT1 NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 2542171: 2542171
31 BRAT1 NM_152743.3(BRAT1): c.675C> T (p.Phe225=) single nucleotide variant Benign rs139443843 GRCh37 Chromosome 7, 2583352: 2583352
32 BRAT1 NM_152743.3(BRAT1): c.675C> T (p.Phe225=) single nucleotide variant Benign rs139443843 GRCh38 Chromosome 7, 2543718: 2543718
33 BRAT1 NM_152743.3(BRAT1): c.1879G> A (p.Ala627Thr) single nucleotide variant Uncertain significance rs750400556 GRCh37 Chromosome 7, 2578290: 2578290
34 BRAT1 NM_152743.3(BRAT1): c.1879G> A (p.Ala627Thr) single nucleotide variant Uncertain significance rs750400556 GRCh38 Chromosome 7, 2538656: 2538656
35 BRAT1 NM_152743.3(BRAT1): c.1867G> A (p.Gly623Ser) single nucleotide variant Benign/Likely benign rs77015302 GRCh37 Chromosome 7, 2578302: 2578302
36 BRAT1 NM_152743.3(BRAT1): c.1867G> A (p.Gly623Ser) single nucleotide variant Benign/Likely benign rs77015302 GRCh38 Chromosome 7, 2538668: 2538668
37 BRAT1 NM_152743.3(BRAT1): c.1135-8C> A single nucleotide variant Benign/Likely benign rs113613637 GRCh37 Chromosome 7, 2581126: 2581126
38 BRAT1 NM_152743.3(BRAT1): c.1135-8C> A single nucleotide variant Benign/Likely benign rs113613637 GRCh38 Chromosome 7, 2541492: 2541492
39 BRAT1 NM_152743.3(BRAT1): c.2353C> T (p.Arg785Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61729932 GRCh37 Chromosome 7, 2577816: 2577816
40 BRAT1 NM_152743.3(BRAT1): c.2353C> T (p.Arg785Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61729932 GRCh38 Chromosome 7, 2538182: 2538182
41 BRAT1 NM_152743.3(BRAT1): c.2209C> T (p.Arg737Trp) single nucleotide variant Benign rs60152725 GRCh38 Chromosome 7, 2538326: 2538326
42 BRAT1 NM_152743.3(BRAT1): c.2209C> T (p.Arg737Trp) single nucleotide variant Benign rs60152725 GRCh37 Chromosome 7, 2577960: 2577960
43 BRAT1 NM_152743.3(BRAT1): c.1931_1932delGAinsAG (p.Arg644Gln) indel Benign rs71531463 GRCh38 Chromosome 7, 2538603: 2538604
44 BRAT1 NM_152743.3(BRAT1): c.1931_1932delGAinsAG (p.Arg644Gln) indel Benign rs71531463 GRCh37 Chromosome 7, 2578237: 2578238
45 BRAT1 NM_152743.3(BRAT1): c.1828C> T (p.Arg610Trp) single nucleotide variant Uncertain significance rs61753094 GRCh37 Chromosome 7, 2578341: 2578341
46 BRAT1 NM_152743.3(BRAT1): c.1828C> T (p.Arg610Trp) single nucleotide variant Uncertain significance rs61753094 GRCh38 Chromosome 7, 2538707: 2538707
47 BRAT1 NM_152743.3(BRAT1): c.1206C> T (p.Asp402=) single nucleotide variant Benign rs7807895 GRCh38 Chromosome 7, 2541413: 2541413
48 BRAT1 NM_152743.3(BRAT1): c.1206C> T (p.Asp402=) single nucleotide variant Benign rs7807895 GRCh37 Chromosome 7, 2581047: 2581047
49 BRAT1 NM_152743.3(BRAT1): c.1925C> A (p.Ala642Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs200502048 GRCh38 Chromosome 7, 2538610: 2538610
50 BRAT1 NM_152743.3(BRAT1): c.1925C> A (p.Ala642Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs200502048 GRCh37 Chromosome 7, 2578244: 2578244

Expression for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Search GEO for disease gene expression data for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal.

Pathways for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

GO Terms for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Sources for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....