MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: childhood-onset epilepsy syndrome (MONDO:0020072)
..Starting node ..atypical childhood epilepsy with centrotemporal spikes ()
Child Nodes:
Sister Nodes:
..acute encephalopathy with inflammation-mediated status epilepticus ()
..atypical childhood epilepsy with centrotemporal spikes ()
..benign occipital epilepsy ()
..childhood absence epilepsy ()
..cryptogenic late-onset epileptic spasms ()
..early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ()
..epilepsy with myoclonic absences ()
..familial partial epilepsy ()
..Jeavons syndrome ()
..Landau-Kleffner syndrome ()
..Lennox-Gastaut syndrome ()
..myoclonic-astastic epilepsy ()
..perioral myoclonia with absences ()
..photosensitive occipital lobe epilepsy ()
..progressive myoclonic epilepsy ()
..rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ()
..rolandic epilepsy-speech dyspraxia syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	100020
Name:	atypical childhood epilepsy with centrotemporal spikes
Definition:	A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	atonic-benign childhood epilepsy with centrotemporal spikes; atypical benign partial epilepsy of childhood; pseudo-Lennox syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
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