Details of Disease

General Information of Disease (ID: DIS6IUH6)

• Disease Name: Landau-Kleffner syndrome
• Synonyms: acquired aphasia with convulsive disorder; acquired epileptiform aphasia; aphasia, acquired, with epilepsy; FESD; epilepsy, focal, with speech disorder and with or without mental retardation; Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant; continuous Spike and waves during slow-Wave sleep syndrome; epilepsy, focal, with speech disorder and with or without intellectual disability; benign epilepsy of childhood with centrotemporal spikes; Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant; epilepsy, focal, with speech disorder and with or without impaired intellectual development; LKS; Landau-Kleffner syndrome; acquired epileptic aphasia
• Definition: Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISD715V: Hereditary neurological disease
  DIS9O5K5: Childhood electroclinical syndrome
  DISYKM6G: Childhood-onset epilepsy syndrome
  DIS6IUH6: Landau-Kleffner syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009509
  MESH ID: D018887
  UMLS CUI: C0282512
  OMIM ID: 245570
  MedGen ID: 79465
  Orphanet ID: 98818
  SNOMED CT ID: 230438007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRIN2A	TTKJEMQ	Strong	Genetic Variation	[1]
GRIN2A	TTKJEMQ	Definitive	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRIN2A	OTTP0KN8	Definitive	Autosomal dominant	[2]

References

• [1] GRIN2A mutations in epilepsy-aphasia spectrum disorders.Brain Dev. 2018 Mar;40(3):205-210. doi: 10.1016/j.braindev.2017.09.007. Epub 2017 Oct 19.
• [2] GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep;45(9):1073-6. doi: 10.1038/ng.2727. Epub 2013 Aug 11.