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GTR Home > Conditions/Phenotypes > Landau-Kleffner syndrome

Landau-Kleffner syndrome

Synonyms
APHASIA, ACQUIRED, WITH EPILEPSY; Acquired aphasia with convulsive disorder; Acquired epileptiform aphasia; EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; Epilepsy with neurodevelopmental defects
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: GRIN2A-Related Disorders
GRIN2A-related disorders encompass a broad phenotypic spectrum that includes developmental delay evolving to intellectual disability (DD/ID), epilepsy, speech and language disorders, movement disorders, and neuropsychiatric disorders. Intellect ranges from normal to profoundly impaired. Observed speech disorders include dysarthria and speech dyspraxia, and both receptive and expressive language delays; more mildly affected individuals may display subtly impaired intelligibility of conversational speech. Epilepsy features include seizure onset usually between ages three and six years, focal epilepsy with language and/or global developmental regression, and electroencephalogram (EEG) abnormalities, including continuous spike-and-wave discharges in sleep or very active centrotemporal discharges. Epilepsy is typically focal and ranges from self-limited epilepsy with centrotemporal spikes to developmental and/or epileptic encephalopathies (DEE/EE), including the syndromes of DEE/EE with spike-wave activation in sleep (DEE/EE-SWAS), which include Landau-Kleffner syndrome. Movement disorders occur less frequently and include ataxia, dystonia, and chorea.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Vincent Strehlow
Kenneth A Myers
Angela T Morgan
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Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPND, FESD, GluN2A, LKS, NMDAR2A, NR2A, GRIN2A
    Summary: glutamate ionotropic receptor NMDA type subunit 2A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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