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Progressive myoclonic epilepsy type 7(EPM7)

MedGen UID:
863857
Concept ID:
C4015420
Disease or Syndrome
Synonyms: EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7
SNOMED CT: Progressive myoclonus epilepsy type 7 (1208939001); Progressive myoclonic epilepsy due to KV3.1 deficiency (1208939001); Progressive myoclonic epilepsy type 7 (1208939001); EPM7 - epilepsy progressive myoclonic 7 (1208939001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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 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): KCNC1 (11p15.1)
 
Monarch Initiative: MONDO:0014521
OMIM®: 616187
Orphanet: ORPHA435438

Definition

Progressive myoclonic epilepsy-7 (EPM7) is a neurologic disorder characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life. Most patients become wheelchair-bound; some patients may have cognitive decline (summary by Muona et al., 2015). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). [from OMIM]

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).
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
EEG with generalized epileptiform discharges
MedGen UID:
869058
Concept ID:
C4023476
Finding
EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
Myoclonic seizure
MedGen UID:
1385980
Concept ID:
C4317123
Sign or Symptom
A myoclonic seizure is a type of motor seizure characterized 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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive myoclonic epilepsy type 7

Professional guidelines

PubMed

Silvennoinen K, Säisänen L, Hyppönen J, Rissanen SM, Karjalainen PA, D'Ambrosio S, Jimenez-Jimenez D, Zagaglia S, Rothwell JC, Balestrini S, Sisodiya SM, Julkunen P, Mervaala E, Kälviäinen R
Epilepsia 2023 Jan;64(1):208-217. Epub 2022 Dec 1 doi: 10.1111/epi.17466. PMID: 36398398Free PMC Article
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C
Orphanet J Rare Dis 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. PMID: 35505348Free PMC Article

Recent clinical studies

Therapy

Pedicelli S, de Palma L, Pelosini C, Cappa M
Ital J Pediatr 2020 Oct 24;46(1):158. doi: 10.1186/s13052-020-00916-2. PMID: 33099310Free PMC Article
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
Capablo JL, Franco R, de Cabezón AS, Alfonso P, Pocovi M, Giraldo P
Epilepsia 2007 Jul;48(7):1406-8. Epub 2007 Apr 13 doi: 10.1111/j.1528-1167.2007.01074.x. PMID: 17433057
Prescrire Int 2005 Apr;14(76):57-9. PMID: 15875342
Doose H, Lunau H, Castiglione E, Waltz S
Neuropediatrics 1998 Oct;29(5):229-38. doi: 10.1055/s-2007-973567. PMID: 9810557

Prognosis

Vogt H, Baisch T, Mueller-Pfeiffer C, Mothersill IW
Epileptic Disord 2023 Jun;25(3):297-308. Epub 2023 May 22 doi: 10.1002/epd2.20017. PMID: 37536959
Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F
Orphanet J Rare Dis 2021 Aug 16;16(1):362. doi: 10.1186/s13023-021-01989-w. PMID: 34399803Free PMC Article
Pan S, Li X, Li L, Lin H, Wang D, Zhang X, Zhao X, Ye J, Huang Z, Lin Y, Duan Y, Ma R, Gao L, Wang C, Wang Y
Seizure 2021 Apr;87:69-74. Epub 2021 Feb 23 doi: 10.1016/j.seizure.2021.02.026. PMID: 33721773
d'Orsi G, Specchio LM; Apulian Study Group on Senile Myoclonic Epilepsy
J Neurol 2014 Aug;261(8):1584-97. Epub 2014 Jun 4 doi: 10.1007/s00415-014-7376-x. PMID: 24893590
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Clinical prediction guides

Vogt H, Baisch T, Mueller-Pfeiffer C, Mothersill IW
Epileptic Disord 2023 Jun;25(3):297-308. Epub 2023 May 22 doi: 10.1002/epd2.20017. PMID: 37536959
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C
Orphanet J Rare Dis 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. PMID: 35505348Free PMC Article
Rubio-Villena C, Viana R, Bonet J, Garcia-Gimeno MA, Casado M, Heredia M, Sanz P
Hum Mol Genet 2018 Apr 1;27(7):1290-1300. doi: 10.1093/hmg/ddy044. PMID: 29408991Free PMC Article
d'Orsi G, Specchio LM; Apulian Study Group on Senile Myoclonic Epilepsy
J Neurol 2014 Aug;261(8):1584-97. Epub 2014 Jun 4 doi: 10.1007/s00415-014-7376-x. PMID: 24893590
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Recent systematic reviews

Pondrelli F, Muccioli L, Licchetta L, Mostacci B, Zenesini C, Tinuper P, Vignatelli L, Bisulli F
Orphanet J Rare Dis 2021 Aug 16;16(1):362. doi: 10.1186/s13023-021-01989-w. PMID: 34399803Free PMC Article

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