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Rigidity and multifocal seizure syndrome, lethal neonatal(RMFSL)

MedGen UID:
482659
Concept ID:
C3281029
Disease or Syndrome
Synonyms: RMFSL
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): BRAT1 (7p22.3)
OMIM®: 614498
Orphanet: ORPHA435845

Definition

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). [from OMIM]

Clinical features

Apnea
MedGen UID:
2009
Concept ID:
C0003578
Pathologic Function
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRigidity and multifocal seizure syndrome, lethal neonatal

Recent clinical studies

Etiology

Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF
Sci Transl Med 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041. PMID: 23035047Free PMC Article

Diagnosis

Fernández-Jaén A, Álvarez S, So EY, Ouchi T, Jiménez de la Peña M, Duat A, Fernández-Mayoralas DM, Fernández-Perrone AL, Albert J, Calleja-Pérez B
Eur J Paediatr Neurol 2016 May;20(3):421-5. Epub 2016 Feb 21 doi: 10.1016/j.ejpn.2016.02.009. PMID: 26947546Free PMC Article
Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N
J Hum Genet 2014 Dec;59(12):687-90. Epub 2014 Oct 16 doi: 10.1038/jhg.2014.91. PMID: 25319849
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF
Sci Transl Med 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041. PMID: 23035047Free PMC Article

Prognosis

Hanes I, Kozenko M, Callen DJ
Pediatr Neurol 2015 Dec;53(6):535-40. Epub 2015 Sep 12 doi: 10.1016/j.pediatrneurol.2015.09.002. PMID: 26483087
Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, Tzur S, Behar DM, Smirin-Yosef P, Salmon-Divon M, Basel-Vanagaite L
Eur J Paediatr Neurol 2015 Mar;19(2):240-2. Epub 2014 Nov 29 doi: 10.1016/j.ejpn.2014.11.004. PMID: 25500575
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF
Sci Transl Med 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041. PMID: 23035047Free PMC Article

Clinical prediction guides

Fernández-Jaén A, Álvarez S, So EY, Ouchi T, Jiménez de la Peña M, Duat A, Fernández-Mayoralas DM, Fernández-Perrone AL, Albert J, Calleja-Pérez B
Eur J Paediatr Neurol 2016 May;20(3):421-5. Epub 2016 Feb 21 doi: 10.1016/j.ejpn.2016.02.009. PMID: 26947546Free PMC Article
Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N
J Hum Genet 2014 Dec;59(12):687-90. Epub 2014 Oct 16 doi: 10.1038/jhg.2014.91. PMID: 25319849

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