Perioral myoclonia with absences

A rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.



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Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 29905155
 A case of perioral myoclonia with absences and its evolution in adulthood?
Surmel R, Kurucu H, Yalcn AD, Yen SN.
Epileptic Disord. 2018;20(3):195-199.
Seizure
Brain Drug Resistant Epilepsy Electroencephalography Homo sapiens Male Middle Aged Myoclonic Epilepsy Seizures
1
(4.0%)		 24298729
 [Perioral myoclonia syndrome with absences: about 2 cases].
Bourcy E, Leroy P, Dubru JM.
Rev Med Liege. 2013;68(10):537-41.
Seizure
Anticonvulsants Child Electroencephalography Females Homo sapiens Male Myoclonic Epilepsy
1
(4.0%)		 21873142
 Perioral myoclonia with absences and myoclonic status aggravated by oxcarbazepine.
Vrielynck P, Rostomashvili N, Degroote E, Ghariani S, van Rijckevorsel K.
Epileptic Disord. 2011;13(3):308-12.
Seizure
Absence Epilepsy Anticonvulsants Brain Child Electroencephalography Homo sapiens Magnetic Resonance Imaging Male Myoclonic Epilepsy
1
(4.0%)		 15820362
 Perioral myoclonia with absences: an overlooked and misdiagnosed generalized seizure type.
Baykan B, Noachtar S.
Epilepsy Behav. 2005;6(3):460-2.
Seizure
Adult Diagnostic Errors Differential Diagnosis Electroencephalography Homo sapiens Intellectual Disability Male Myoclonic Epilepsy Seizures Video Recording
1
(4.0%)		 11313219
 Perioral myoclonia with absence seizures: a rare epileptic syndrome.
Bilgic B, Baykan B, Gurses C, Gokyigit A.
Epileptic Disord. 2001;3(1):23-7.
Seizure
Absence Epilepsy Differential Diagnosis Homo sapiens Syndrome Tremor Videotape Recording
1
(4.0%)		 9253489
 Perioral myoclonia with absences? A case report with EEG and voltage mapping analysis.
Clemens B.
Brain Dev. 1997;19(5):353-8.
Seizure
Absence Epilepsy Anticonvulsants Brain Mapping Child Electroencephalography Females Homo sapiens Myoclonus Triazines Video Recording
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0002069 Generalized tonic-clonic seizures Obligate (100%)
HP:0010850 EEG with spike-wave complexes Obligate (100%)
HP:0002371 Loss of speech Very frequent (99-80%)
HP:0004372 Reduced consciousness/confusion Very frequent (99-80%)
HP:0011168 Eyelid myoclonias Very frequent (99-80%)
HP:0012462 Chin myoclonus Very frequent (99-80%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0002121 Absence seizure Frequent (79-30%)
HP:0002123 Generalized myoclonic seizures Frequent (79-30%)
HP:0002527 Falls Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0001250 Seizures 2
HP:0002121 Absence seizure 2
HP:0001336 Myoclonus 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID