(Q6947909)

English

myoclonic astatic epilepsy

generalised idiopathic epilepsy

Doose syndrome
MAE
Myoclonic-astatic epilepsy
myoclonic atonic epilepsy
myoclonic-atonic epilepsy
epilepsy with myoclonic-atonic seizures
myoclonic-astatic epilepsy in early childhood
Epilepsy with myoclonic-atonic seizure

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Statements

0 references

2 references

Enhanced tonic GABAA inhibition in typical absence epilepsy.

stated in

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

designated intractable/rare disease

1 reference

reference URL

https://ddrare.nibiohn.go.jp/

retrieved

17 May 2019

subclass of

Idiopathic generalized epilepsy

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named after

Hermann Doose

2 references

reference URL

https://www.ilae.org/about-ilae/in-memoriam/in-memoriam-recent-and-archive-deaths/hermann-doose-1927-2018

DOI

10.1111/J.1469-8749.2010.03744.X

genetic association

SLC6A1

1 reference

stated in

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

CHD2

1 reference

stated in

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

external data available at URL

http://www.nanbyou.or.jp/entry/4417

language of work or name

Japanese

1 reference

reference URL

https://ddrare.nibiohn.go.jp/

retrieved

17 May 2019

WordLift URL

http://data.medicalrecords.com/medicalrecords/healthwise/epilepsy__myoclonic_seizures

1 reference

reference URL

https://www.medicalrecords.com/health-a-to-z/epilepsy-myoclonic-seizures-definition/

NCI Thesaurus ID

C165674

0 references

exact match

http://www.orpha.net/ORDO/Orphanet_1942

0 references

Identifiers

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8A61.22

Epilepsy with myoclonic-astatic seizures

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Microsoft Academic ID

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Myoclonic astatic epilepsy

0 references

(Q6947909)

myoclonic astatic epilepsy

Statements

Identifiers

Sitelinks

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