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Severe myoclonic epilepsy in infancy(DRVT)

MedGen UID:
148243
Concept ID:
C0751122
Disease or Syndrome
Synonyms: Dravet syndrome; DRVT; Epilepsy, Myoclonic, Infantile, Severe; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); GABRG2-Related Dravet Syndrome; SCN9A-Related Dravet Syndrome
SNOMED CT: Severe myoclonic epilepsy in infancy (230437002); Dravet Syndrome (230437002); Dravet syndrome (230437002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SCN1A (2q24.3)
 
Monarch Initiative: MONDO:0100135
OMIM®: 607208
Orphanet: ORPHA33069

Disease characteristics

Excerpted from the GeneReview: SCN1A Seizure Disorders
SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family. [from GeneReviews]
Authors:
Ian O Miller  |  Marcio A Sotero de Menezes   view full author information

Additional description

From OMIM
Dravet syndrome, first described by Dravet (1978), is a clinical term for a severe neurologic disorder characterized by the onset of seizures in the first year of life after normal early development. Affected individuals usually present with generalized tonic, clonic, and tonic-clonic seizures that may initially be induced by fever and are usually refractory to treatment. Later, patients tend to manifest other seizure types, including absence, myoclonic, and partial seizures. The EEG is often normal at first, but later characteristically shows generalized spike-wave activity and other abnormalities. Psychomotor development stagnates around the second year of life, and affected individuals show subsequent mental decline, behavioral problems, and learning disabilities (summary by Dravet et al., 1992; Sugawara et al., 2002; Harkin et al., 2007; Shbarou and Mikati, 2016). 'Severe myoclonic epilepsy of infancy' (SMEI) and 'migrating partial seizures of infancy' (MPSI) are other clinical manifestations of Dravet syndrome (summary by Ohmori et al., 2002; Carranza Rojo et al., 2011; Dravet et al., 2011). Although most cases of Dravet syndrome are caused by mutation in the SCN1A gene, there are other developmental and epileptic encephalopathies (DEEs) with clinical features similar to Dravet syndrome that are caused by mutations in other genes (summary by Steel et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350.  http://www.omim.org/entry/607208

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Status epilepticus
MedGen UID:
11586
Concept ID:
C0038220
Disease or Syndrome
A life-threatening situation in which the brain is in a continuous state of seizure.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Focal impaired awareness seizure
MedGen UID:
543022
Concept ID:
C0270834
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
Atonic seizure
MedGen UID:
78735
Concept ID:
C0270846
Disease or Syndrome
Epileptic encephalopathy
MedGen UID:
452596
Concept ID:
C0543888
Disease or Syndrome
A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Focal hemiclonic seizure
MedGen UID:
335477
Concept ID:
C1846620
Disease or Syndrome
A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Visually-induced seizure
MedGen UID:
1720648
Concept ID:
C2080645
Disease or Syndrome
Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.
Generalized myoclonic seizure
MedGen UID:
892704
Concept ID:
C4021759
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
Myoclonic seizure
MedGen UID:
1385980
Concept ID:
C4317123
Sign or Symptom
A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
Cerebral visual impairment
MedGen UID:
890568
Concept ID:
C4048268
Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSevere myoclonic epilepsy in infancy

Professional guidelines

PubMed

Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schöls L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T; EFNS.
Eur J Neurol 2010 May;17(5):641-8. Epub 2010 Mar 9 doi: 10.1111/j.1468-1331.2010.02985.x. PMID: 20298421

External

Orphanet, Dravet syndrome, 2008

Suggested Reading

PubMed

Steel D, Symonds JD, Zuberi SM, Brunklaus A
Epilepsia 2017 Nov;58(11):1807-1816. Epub 2017 Sep 7 doi: 10.1111/epi.13889. PMID: 28880996

Recent clinical studies

Etiology

Brigo F, Storti M
Cochrane Database Syst Rev 2013 Nov 19;(11):CD010483. doi: 10.1002/14651858.CD010483.pub2. PMID: 24254932
Herini ES, Gunadi, van Kempen MJ, Yusoff S, Sutaryo, Sunartini, Patria SY, Matsuo M, Lindhout D, Nishio H
Pediatr Int 2010 Apr;52(2):234-9. Epub 2009 Jun 26 doi: 10.1111/j.1442-200X.2009.02916.x. PMID: 19563458
Sakakibara T, Nakagawa E, Saito Y, Sakuma H, Komaki H, Sugai K, Sasaki M, Kurahashi H, Hirose S
Epilepsia 2009 Sep;50(9):2158-62. Epub 2009 Jun 26 doi: 10.1111/j.1528-1167.2009.02175.x. PMID: 19563349
Iannetti P, Parisi P, Spalice A, Ruggieri M, Zara F
Epilepsy Res 2009 Jul;85(1):89-95. Epub 2009 Mar 20 doi: 10.1016/j.eplepsyres.2009.02.014. PMID: 19303743
Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K
Brain Dev 2008 Nov;30(10):629-35. doi: 10.1016/j.braindev.2008.03.002. PMID: 18424028

Diagnosis

Dravet C, Oguni H
Handb Clin Neurol 2013;111:627-33. doi: 10.1016/B978-0-444-52891-9.00065-8. PMID: 23622210
Dravet C, Bureau M, Dalla Bernardina B, Guerrini R
Epilepsia 2011 Apr;52 Suppl 2:1-2. doi: 10.1111/j.1528-1167.2011.02993.x. PMID: 21463271
Herini ES, Gunadi, van Kempen MJ, Yusoff S, Sutaryo, Sunartini, Patria SY, Matsuo M, Lindhout D, Nishio H
Pediatr Int 2010 Apr;52(2):234-9. Epub 2009 Jun 26 doi: 10.1111/j.1442-200X.2009.02916.x. PMID: 19563458
Hino-Fukuyo N, Haginoya K, Togashi N, Uematsu M, Kitamura T, Kakisaka Y, Ishitobi M, Wakusawa K, Iinuma K, Oguni H, Yamakawa K, Tsuchiya S
J Child Neurol 2009 Feb;24(2):228-30. doi: 10.1177/0883073808327839. PMID: 19182163
Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, Ogawa A, Yasumoto S, Oguni H, Kure S, Fujii T, Ito M, Okuno T, Shirasaka Y, Natsume J, Hasegawa A, Konagaya A, Kaneko S, Hirose S
Epilepsia 2008 Sep;49(9):1528-34. Epub 2008 Apr 21 doi: 10.1111/j.1528-1167.2008.01609.x. PMID: 18479393

Therapy

Brigo F, Storti M
Cochrane Database Syst Rev 2013 Nov 19;(11):CD010483. doi: 10.1002/14651858.CD010483.pub2. PMID: 24254932
Iannetti P, Parisi P, Spalice A, Ruggieri M, Zara F
Epilepsy Res 2009 Jul;85(1):89-95. Epub 2009 Mar 20 doi: 10.1016/j.eplepsyres.2009.02.014. PMID: 19303743
Tanabe T, Awaya Y, Matsuishi T, Iyoda K, Nagai T, Kurihara M, Yamamoto K, Minagawa K, Maekawa K
Brain Dev 2008 Nov;30(10):629-35. doi: 10.1016/j.braindev.2008.03.002. PMID: 18424028
Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G
Epilepsia 2008 Feb;49(2):343-8. Epub 2007 Nov 19 doi: 10.1111/j.1528-1167.2007.01423.x. PMID: 18028411
Korff C, Laux L, Kelley K, Goldstein J, Koh S, Nordli D Jr
J Child Neurol 2007 Feb;22(2):185-94. doi: 10.1177/0883073807300294. PMID: 17621480

Prognosis

Iannetti P, Parisi P, Spalice A, Ruggieri M, Zara F
Epilepsy Res 2009 Jul;85(1):89-95. Epub 2009 Mar 20 doi: 10.1016/j.eplepsyres.2009.02.014. PMID: 19303743
Miyama S, Goto T, Inoue Y, Yamakawa K
Pediatr Neurol 2008 Aug;39(2):120-2. doi: 10.1016/j.pediatrneurol.2008.04.003. PMID: 18639757
Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G
Epilepsia 2008 Feb;49(2):343-8. Epub 2007 Nov 19 doi: 10.1111/j.1528-1167.2007.01423.x. PMID: 18028411
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, Spain WJ, McKnight GS, Scheuer T, Catterall WA
Nat Neurosci 2006 Sep;9(9):1142-9. Epub 2006 Aug 20 doi: 10.1038/nn1754. PMID: 16921370
Fujiwara T
Epilepsy Res 2006 Aug;70 Suppl 1:S223-30. Epub 2006 Jun 27 doi: 10.1016/j.eplepsyres.2006.01.019. PMID: 16806826

Clinical prediction guides

Yamakawa K
Brain Dev 2009 May;31(5):401-4. Epub 2009 Feb 8 doi: 10.1016/j.braindev.2008.11.015. PMID: 19203854
Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F
Epilepsia 2007 Jun;48(6):1092-6. Epub 2007 Mar 22 doi: 10.1111/j.1528-1167.2007.01020.x. PMID: 17381446
Ceulemans BP, Claes LR, Lagae LG
Pediatr Neurol 2004 Apr;30(4):236-43. doi: 10.1016/j.pediatrneurol.2003.10.012. PMID: 15087100
Ohtsuka Y, Ohmori I, Ogino T, Ouchida M, Shimizu K, Oka E
Brain Dev 2003 Sep;25(6):401-5. doi: 10.1016/s0387-7604(03)00025-1. PMID: 12907273
Kanazawa O
Brain Dev 2001 Nov;23(7):749-56. doi: 10.1016/s0387-7604(01)00279-0. PMID: 11701289

Recent systematic reviews

Bertuccelli M, Verheyen K, Hallemans A, Sander JW, Ragona F, Bisiacchi P, Masiero S, Del Felice A
Epilepsia 2021 Apr;62(4):874-887. Epub 2021 Mar 1 doi: 10.1111/epi.16844. PMID: 33646591
Brigo F, Storti M
Cochrane Database Syst Rev 2013 Nov 19;(11):CD010483. doi: 10.1002/14651858.CD010483.pub2. PMID: 24254932
Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G
Epilepsia 2008 Feb;49(2):343-8. Epub 2007 Nov 19 doi: 10.1111/j.1528-1167.2007.01423.x. PMID: 18028411

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