Centralopathic epilepsy

Preferred Label : Centralopathic epilepsy;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : BECTS; Benign epilepsy of childhood with centrotemporal spikes; ECT; Centrotemporal epilepsy; Temporal-central focal epilepsy; Benign rolandic epilepsy;

Description : Benign epilepsy of childhood with centrotemporal spikes (BECTS) or sharp waves, also known as rolandic epilepsy, is the most common idiopathic childhood epilepsy syndrome (Neubauer et al., 1998). It is termed 'rolandic' epilepsy because of the characteristic features of partial seizures involving the region around the lower portion of the central gyrus of Rolando. This results in classic focal seizures that affect the vocal tract, beginning with guttural sounds at the larynx and sensorimotor symptoms that progress to the tongue, mouth, and face, resulting in hypersalivation and speech arrest. Seizures most often occur in sleep shortly before awakening. The disorder occurs more often in boys than in girls (3:2). Rolandic epilepsy is considered a neurodevelopmental disorder, affecting 0.2% of the population. Affected individuals may have learning disabilities or behavioral problems; however, the seizures and accompanying problems usually remit during adolescence (summary by Strug et al., 2009). See also focal epilepsy and speech disorder (FESD; 245570), which is caused by mutation in the GRIN2A gene (138253) on chromosome 16p13. Some patients with GRIN2A mutations show features consistent with a clinical diagnosis of BECTS.;

Inheritance : Isolated cases;

Prefixed ID : %117100;

Details

Origin ID

117100;

UMLS CUI

C2363129;

Automatic exact mappings (from CISMeF team)
- Ecarin Clotting Time Measurement [NCIt concept]
- Electroconvulsive Therapy [NCIt concept]
- Electroconvulsive therapy (procedure) [SNOMED CT concept]
- Electroshock therapy associated with injury or harm in therapeutic use [ICD-11 More detail]
- Eosinophilic cationic protein (substance) [SNOMED CT concept]
- Transthoracic echocardiography (procedure) [SNOMED CT concept]
- electroconvulsive therapy [MeSH Descriptor]
- work capacity evaluation [MeSH Descriptor]
Currated CISMeF NLP mapping
- Benign Rolandic Epilepsy [NCIt concept]
- Benign Rolandic epilepsy (disorder) [SNOMED CT concept]
- Benign childhood epilepsy with centro-temporal spikes [ICD-11 Sub-sub category]
- Benign rolandic epilepsy [MedDRA Preferred Term]
- Rolandic epilepsy [PASCAL descriptor]
- Rolandic epilepsy [ORDO Disease]
- benign epilepsy with centrotemporal spikes [DO Concept]
- benign rolandic epilepsy [MeSH concept]
- benign rolandic epilepsy [SNOMED Notion]
- epilepsy, rolandic [MeSH concept]
DO Cross reference
- benign epilepsy with centrotemporal spikes [DO Concept]
False automatic mappings
- ECT [MedDRA LLT]
- Ectomesenchymal Chondromyxoid Tumor [NCIt concept]
HPO term(s)
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- EEG with centrotemporal focal spike waves [HPO term]
- Epilepsy [HPO term]
- Focal-onset seizure [HPO term]
- Isolated cases [HPO term]
- Nocturnal seizures [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Rolandic epilepsy [ORDO Disease]
See also inter- (CISMeF)
- epilepsy, rolandic [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign Rolandic Epilepsy [NCIt concept]
- Benign Rolandic epilepsy (disorder) [SNOMED CT concept]
- Benign rolandic epilepsy [MedDRA Preferred Term]
- benign rolandic epilepsy [SNOMED Notion]
- benign rolandic epilepsy [MeSH concept]
Validated automatic mappings to NTBT
- rolandic epilepsy [Disease (Nov.)]

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