Epilepsy, focal, with speech disorder and with or without impaired intellectual development

Preferred Label : Epilepsy, focal, with speech disorder and with or without impaired intellectual development;

Symbol : FESD;

CISMeF acronym : ADRESD; BECTS; CSWS; CSWSS; FESD; LKS; RESDAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Aphasia, acquired, with epilepsy; Epilepsy, focal, with speech disorder and with or without mental retardation;

Included titles and symbols : Landau-kleffner syndrome; Continuous spike and waves during slow-wave sleep syndrome; Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant; LKS; CSWS; CSWSS; RESDAD; ADRESD;

Description : Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ionotropic N-methyl-D-aspartate glutamate receptor subunit 2A gene (GRIN2A, 138253.0001);

Prefixed ID : #245570;

Details

Origin ID

245570;

UMLS CUI

C0282512;

Automatic exact mappings (from CISMeF team)
- Benign Rolandic Epilepsy [NCIt concept]
- Benign childhood epilepsy with centro-temporal spikes [ICD-11 Sub-sub category]
- Continuous spike and waves during slow sleep [HPO term]
- Continuous spikes and waves during sleep [ORDO Disease]
- GRIN2A wt Allele [NCIt concept]
- Landau-Kleffner syndrome [PASCAL descriptor]
- Landau-Kleffner syndrome [DO Concept]
- Other epilepsy and recurrent seizures [ICD-10 Sub-category]
- Rolandic epilepsy [ORDO Disease]
- Sri Lanka [NCIt concept]
- benign epilepsy with centrotemporal spikes [DO Concept]
- epilepsy, rolandic [MeSH Descriptor]
- rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant [MeSH concept]
- rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Acquired epileptic aphasia (disorder) [SNOMED CT concept]
- Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation [NCIt concept]
- Landau-Kleffner Syndrome [NCIt concept]
- Landau-Kleffner syndrome [MeSH concept]
- Landau-Kleffner syndrome [ORDO Disease]
- Landau-Kleffner syndrome [MedDRA LLT]
- landau-kleffner syndrome [MeSH Descriptor]
DO Cross reference
- Landau-Kleffner syndrome [DO Concept]
Genes related to phenotype
- Glutamate receptor, ionotropic, n-methyl-D-aspartate, subunit 2a [OMIM gene]
HPO term(s)
- Aphasia [HPO term]
- Atonic seizure [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Continuous spike and waves during slow sleep [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Dysphasia [HPO term]
- EEG with centrotemporal focal spike waves [HPO term]
- Focal impaired awareness seizure [HPO term]
- Focal-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Pes cavus [HPO term]
- Primary microcephaly [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Speech apraxia [HPO term]
ORDO concept(s)
- Continuous spikes and waves during sleep [ORDO Disease]
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation [ORDO Disease]
- Landau-Kleffner syndrome [ORDO Disease]
- Rolandic epilepsy [ORDO Disease]
- Rolandic epilepsy-speech dyspraxia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acquired epileptic aphasia [MedDRA Preferred Term]
- Acquired epileptic aphasia (disorder) [SNOMED CT concept]
- Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation [NCIt concept]
- Landau-Kleffner Syndrome [NCIt concept]
- Landau-Kleffner syndrome [MeSH concept]
- Landau-Kleffner syndrome [MedDRA LLT]
- Landau-Kleffner syndrome [DO Concept]
- Landau-Kleffner syndrome [ORDO Disease]
- landau-kleffner syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- Epilepsy with continuous spike wave during sleep [ICD-11 More detail]

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