RMFSL
MCID: RGD002
MIFTS: 33

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

Aliases & Descriptions for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

Name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 54 24 66 13 69
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 56 29
Rmfsl 24 66
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 56
Muscle Rigidity 42

Characteristics:

Orphanet epidemiological data:

56
lethal neonatal spasticity-epileptic encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 614498
Orphanet 56 ORPHA435845
ICD10 via Orphanet 34 G40.4
MedGen 40 C3281029

Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

UniProtKB/Swiss-Prot : 66 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 lethal neonatal rigidity-multifocal seizure syndrome, is related to malignant hyperthermia and neuroleptic malignant syndrome, and has symptoms including clonus, dysautonomia and global developmental delay. An important gene associated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal is BRAT1 (BRCA1 Associated ATM Activator 1). The drugs Donepezil and Baclofen have been mentioned in the context of this disorder. Affiliated tissues include bone and tongue.

OMIM : 54 Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy... (614498) more...

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 by clinical synopsis from OMIM:

614498

Clinical features from OMIM:

614498

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

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 clonus 32 HP:0002169
2 dysautonomia 32 HP:0002459
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 optic atrophy 32 HP:0000648
6 hypertonia 32 HP:0001276
7 flexion contracture 32 HP:0001371
8 micrognathia 32 HP:0000347
9 generalized myoclonic seizures 32 HP:0002123
10 babinski sign 32 HP:0003487
11 apnea 32 HP:0002104
12 rigidity 32 HP:0002063
13 neuronal loss in central nervous system 32 HP:0002529
14 gliosis 32 HP:0002171
15 bradycardia 32 HP:0001662
16 delayed myelination 32 HP:0012448
17 myoclonic spasms 32 HP:0003739
18 progressive microcephaly 32 HP:0000253

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


clonus

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

Drugs for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 362)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4 120014-06-4 3152
2
Baclofen Approved Phase 4 1134-47-0 2284
3
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
4
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
5
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
6
Remifentanil Approved Phase 4 132875-61-7 60815
7
Capsaicin Approved Phase 4 404-86-4 1548943
8
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3 2078-54-8 4943
9
Chlorhexidine Approved, Vet_approved Phase 4,Phase 1 55-56-1 9552079 2713
10
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
11
Ketamine Approved, Vet_approved Phase 4,Phase 3 6740-88-1 3821
12
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
13
Ezetimibe Approved Phase 4 163222-33-1 150311
14
Pravastatin Approved Phase 4 81093-37-0 54687
15
Simvastatin Approved Phase 4 79902-63-9 54454
16
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 437-38-7 3345
17
Milnacipran Approved Phase 4 92623-85-3 65833
18
Dopamine Approved Phase 4,Phase 2 51-61-6, 62-31-7 681
19
Memantine Approved, Investigational Phase 4 19982-08-2 4054
20
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
21
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
22
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
23
Ziprasidone Approved Phase 4 146939-27-7 60854
24
Citalopram Approved Phase 4 59729-33-8 2771
25
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
26
Dutasteride Approved, Investigational Phase 4 164656-23-9 152945 6918296
27
Methyltestosterone Approved Phase 4 58-18-4 6010
28
Testosterone Approved, Investigational Phase 4 58-22-0 6013
29
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
30
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
31
Succinylcholine Approved Phase 4 306-40-1 5314
32
Guaifenesin Approved, Vet_approved Phase 4,Phase 2 93-14-1 3516
33
Chlorpromazine Approved, Vet_approved Phase 4 50-53-3 2726
34
Acetaminophen Approved Phase 4,Phase 1 103-90-2 1983
35
Codeine Approved, Illicit Phase 4 76-57-3 5284371
36
Lopinavir Approved Phase 4 192725-17-0 92727
37
Nevirapine Approved Phase 4 129618-40-2 4463
38
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
39
Dihydrotestosterone Illicit Phase 4 521-18-6 10635
40 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2
41 Cholinesterase Inhibitors Phase 4,Phase 3
42 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
43 Nootropic Agents Phase 4
44 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
45 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
46 Botulinum Toxins Phase 4,Phase 3,Phase 1,Phase 2
47 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2
48 incobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2
49 Neuromuscular Agents Phase 4,Phase 1,Phase 2
50 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 474)
id Name Status NCT ID Phase
1 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4
2 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Unknown status NCT00752934 Phase 4
3 Comparison of the Pentax AWS® With the Macintosh Laryngoscopic Intubation in Obstructive Sleep Apnea Syndrome Patients Unknown status NCT01428570 Phase 4
4 Botox for Neurogenic Detrusor Overactivity and the Prevention of Autonomic Dysreflexia Following SCI Unknown status NCT02298660 Phase 4
5 The Hysteroscopic Morcellator (HM). Unknown status NCT01537822 Phase 4
6 The Effect of High-dose Remifentanil on Established Sunburn-induced Hyperalgesia in Human Volunteers (HighDose RemiSun) Unknown status NCT01015482 Phase 4
7 The Effect of Remifentanil on Established Sunburn-induced Hyperalgesia in Human Volunteers Unknown status NCT00811837 Phase 4
8 The Effect of Remifentanil on Established Capsaicin-Induced Hyperalgesia in Human Volunteers Unknown status NCT00789386 Phase 4
9 The Effect of High-dose Remifentanil on Established Capsaicin-induced Hyperalgesia in Human Volunteers Unknown status NCT00886106 Phase 4
10 Remifentanil Use in Pediatric Rigid Bronchoscopy Completed NCT01947114 Phase 4
11 Comparison of Treatments of Osteoporotic Compression Fracture Using Rigid Brace, Soft Brace, and no Brace Completed NCT02049931 Phase 4
12 A Randomized, Open-Label, Crossover, Multicenter, Single Dose Comparator Study Evaluating Onset Of Penile Rigidity In Men With Erectile Dysfunction Who Are Treated With Sildenafil And Tadalafil Completed NCT00644956 Phase 4
13 Vytorin on Carotid Intima-media Thickness and Overall Rigidity Completed NCT00738296 Phase 4
14 Clinical Evaluation of HPT Treated Rigid Contact Lenses Made From Roflufocon D Completed NCT02553681 Phase 4
15 Tape Versus Semirigid Versus Lace-up Ankle Support in the Treatment of Acute Lateral Ankle Ligament Injury. Completed NCT01126242 Phase 4
16 Assessment of Hemodynamic Response During Intubation Between Rigid Laryngoscopy and Track Light in Coronary Patients Completed NCT01682707 Phase 4
17 Effectiveness of ActiSight™ Needle Guidance System in Patients Undergoing CT-Guided Procedures Completed NCT01148706 Phase 4
18 Automated Anesthesia During Bronchoscopy Completed NCT00571181 Phase 4
19 Evaluation of Primary Plating in Sternotomy Patients for Osteosynthesis and Pain Completed NCT00819286 Phase 4
20 Effects of a Pectoralis Minor Muscle Stretching Protocol Completed NCT01956240 Phase 4
21 EZ Blocker Versus Left Sided Double-lumen Tube Completed NCT01073722 Phase 4
22 Treatment of Procedural Pain Associated With Turning in Patients With Mechanical Ventilation Completed NCT01950000 Phase 4
23 A Study to Evaluate the Effects of Milnacipran on Pain Processing and Functional MRI in Patients With Fibromyalgia Completed NCT01173055 Phase 4
24 Namenda (Memantine) for Non-Motor Symptoms in Parkinson's Disease Completed NCT00646204 Phase 4
25 Tracheal Intubation With Collar Immobilisation : a Comparison of Glidescope and Fastrach Completed NCT02245880 Phase 4
26 Pramipexole Versus Placebo in Parkinson's Disease (PD) Patients With Depressive Symptoms Completed NCT00297778 Phase 4
27 Use, Effects and Side-effects of Second-generation Antipsychotics in a Naturalistic Setting Completed NCT00932529 Phase 4
28 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4
29 Surface Acoustic Wave Ultrasound in Trigeminal Neuralgia Pain Completed NCT01447108 Phase 4
30 Study of Memantine for Gait Disorders And Attention Deficit In Parkinson's Disease Completed NCT01108029 Phase 4
31 Dexmedetomidine vs Propofol on the Recordings of Deep Brain Activity Measured Through Implanted Stimulators Completed NCT02256319 Phase 4
32 A Comparison of Supraglottic Airway Devices Completed NCT02339519 Phase 4
33 The Role of 5-alpha Reductase in Mediating Testosterone Actions Completed NCT00493987 Phase 4
34 Proximal Junctional Kyphosis Following Long Instrumented Spinal Fusion: The Effect of Implant Selection Recruiting NCT01441999 Phase 4
35 Intrathecal Baclofen (ITB) Delivery Location and Its Effect on Spasticity Recruiting NCT02903823 Phase 4
36 Surgical Treatment of Ischemic Mitral Regurgitation Recruiting NCT01368575 Phase 4
37 Assessment of the Effects of Atorvastatin Therapy on Myocardial Deformation Characteristics, in Patients With STEMI Recruiting NCT02590653 Phase 4
38 Use of Sugammadex for Reversal of Paralysis in Microlaryngoscopy Recruiting NCT03111121 Phase 4
39 Use of Interventional MRI for Implantation of Deep Brain Stimulator Electrodes Recruiting NCT00792532 Phase 4
40 Comparison of Combination Olanzapine+Lithium or Chlorpromazine+Lithium in Treatment of First Manic Episode With Psychotic Features Recruiting NCT00202293 Phase 4
41 Comparison of Double Lumen Tube Placement Techniques Recruiting NCT02495259 Phase 4
42 An Evaluation of Rigid Sternal Fixation in Supporting Bone Healing and Improving Postoperative Recovery Active, not recruiting NCT01783483 Phase 4
43 Rotigotine Effect on Nocturnal Hypokinesia Compares to Placebo Control: A Quantitative Assessment by Wearable Sensors Active, not recruiting NCT03098368 Phase 4
44 Feasibility and Yield of a New 20 G ProCore Needle With Coiled Sheath in the Gastrointestinal Subepithelial Tumors Enrolling by invitation NCT02884154 Phase 4
45 TVT-ABBREVO Versus SERASIS for the Treatment of Female Urinary Stress Incontinence: 1 Year Outcomes of a Comparative Study With 2 Trans-obturator Sub Mid Urethral Slings Not yet recruiting NCT02867748 Phase 4
46 Evaluating Different Modalities for Pleural Adhesiolysis at Assuit University Hospital Not yet recruiting NCT03172052 Phase 4
47 Succinylcholine or Rocuronium for Rigid Bronchoscopy Under General Anesthesia Terminated NCT01579864 Phase 4
48 Trial About Hepatic Security of Antiretroviral Treatment Based on Kaletra Versus Nevirapine in co-Infected HIV/HCV Patients Terminated NCT00661349 Phase 4
49 Treatment of Chronic Pain From Osteoarthritis Withdrawn NCT02032927 Phase 4
50 Safety and Efficacy of Bone Marrow MNC for the Treatment of Cerebral Palsy in Subjects Below 15 Years Unknown status NCT01832454 Phase 2, Phase 3

Search 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:

id Genetic test Affiliating Genes
1 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 29 24 BRAT1

Anatomical Context for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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

39
Bone, Tongue

Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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

6
id 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.453_454insGAGAAGAT (p.Leu152Glufs) insertion Pathogenic rs727505362 GRCh38 Chromosome 7, 2543939: 2543940
3 BRAT1 NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro) single nucleotide variant Pathogenic rs727505363 GRCh37 Chromosome 7, 2587064: 2587064
4 BRAT1 NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs) deletion Pathogenic rs727505364 GRCh37 Chromosome 7, 2581806: 2581807
5 BRAT1 NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs) deletion Pathogenic rs727505365 GRCh37 Chromosome 7, 2581076: 2581076
6 BRAT1 NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter) single nucleotide variant Pathogenic rs794729222 GRCh37 Chromosome 7, 2578312: 2578312

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

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