Benign adult familial myoclonic epilepsy

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.



Input patient's signs and symptoms


Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 30591883
 Sleep is associated with reduction of epileptiform discharges in benign adult familial myoclonus epilepsy.
Hitomi T, Inouchi M, Takeyama H, Kobayashi K, Sultana S, Inoue T, Nakayama Y, Shimotake A, Matsuhashi M, Matsumoto R, Chin K, Takahashi R, Ikeda A.
Epilepsy Behav Case Rep. 2019;11:18-21.
Irritability
1
(4.0%)		 17645541
 Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy.
Striano P, Coppola A, Madia F, Pezzella M, Ciampa C, Zara F, Striano S.
Epilepsia. 2007;48(10):1995-8.
Status epilepticus
FCMTE1
Acute Disease Amines Anticonvulsants Benzodiazepines Cyclohexanecarboxylic Acids Electroencephalography Haplotypes Homo sapiens Male Middle Aged Myoclonic Epilepsy Severity of Illness Index Status Epilepticus Tremor
1
(4.0%)		 12027575
 Benign adult familial myoclonic epilepsy (BAFME) with night blindness.
Manabe Y, Narai H, Warita H, Hayashi T, Shiro Y, Sakai K, Kashihara K, Shoji M, Abe K.
Seizure. 2002;11(4):266-8.
Blindness
FCMTE1
Adult Calcium Channel Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 8 Electroencephalography Females Homo sapiens Male Myoclonic Epilepsy Nyctalopia Severity of Illness Index X Chromosome
1
(4.0%)		 9805989
 [A case of familial myoclonus showing extremely benign clinical course].
Nagayama S, Kishikawa H, Yukitake M, Matsui M, Kuroda Y.
Rinsho Shinkeigaku. 1998;38(5):430-4.
Myoclonus
ATN1
Disease Progression Electromyography Females Homo sapiens Myoclonic Epilepsy Myoclonus Somatosensory Evoked Potentials Time Factors
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0001336 Myoclonus Very frequent (99-80%)
HP:0002353 EEG abnormality Very frequent (99-80%)
HP:0002378 Hand tremor Very frequent (99-80%)
HP:0002197 Generalized-onset seizure Frequent (79-30%)
HP:0007359 Focal-onset seizure Frequent (79-30%)
HP:0001249 Intellectual disability Occasional (29-5%)
HP:0002315 Headache Occasional (29-5%)
HP:0100576 Amaurosis fugax Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000618 Blindness 1
HP:0000737 Irritability 1
HP:0001336 Myoclonus 1
HP:0002133 Status epilepticus 1


Causative gene(s) retrieved from Orphanet

    Total: 4

Gene Symbol Gene Name Entrez Gene ID
SAMD12 sterile alpha motif domain containing 12 401474
CTNND2 catenin delta 2 1501
CNTN2 contactin 2 6900
ADRA2B adrenoceptor alpha 2B 151