Details of Disease

General Information of Disease (ID: DIS9DZIZ)

• Disease Name: Myoclonic-atonic epilepsy
• Synonyms: mae; myoclonic-atonic epilepsy; Myoclonic Atonic Epilepsy
• Disease Hierarchy:
  DISTAVMU: Myoclonic-astatic epilepsy
  DIS9DZIZ: Myoclonic-atonic epilepsy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A1	DT8Z563	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC6A1	OTLCJJF3	Definitive	Autosomal dominant	[1]

References

• [1] Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet. 2015 May 7;96(5):808-15.