ORPHA:86814

Familial adult myoclonic epilepsy

Synonyms: ADCME · Autosomal dominant cortical myoclonus and epilepsy · BAFME · Benign adult familial myoclonus epilepsy · FAME · FCMTE · Familial cortical myoclonic tremor and epilepsy

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: All ages
Status: active

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial adult myoclonic epilepsy	ADCME · Autosomal dominant cortical myoclonus and epilepsy · BAFME · Benign adult familial myoclonus epilepsy · FAME · FCMTE · Familial cortical myoclonic tremor and epilepsy
fr	Epilepsie myoclonique bénigne familiale de l'adulte	ADCME · BAFME · Epilepsie myoclonique familiale de l'adulte · FAME · FCMTE · Myoclonie corticale-épilepsie, autosomique dominante · Tremblement myoclonique cortical familial et épilepsie
de	Familiäre adulte myoklonische Epilepsie	ADCME · BAFME · FAME · FCMTE · Kortikale Myoklonie und Epilepsie, autosomal-dominant · Kortikaler myokloner Tremor und Epilepsie, familiäre Form · Myoklonusepilepsie, adulte, familiäre Form
es	Epilepsia mioclónica familiar del adulto	ADCME · BAFME · Epilepsia mioclónica benigna familiar del adulto · FAME · FCMTE · Mioclonía cortical y epilepsia autosómica dominante · Temblor mioclónico cortical familiar y epilepsia
it	Epilessia mioclonica familiare dell'adulto	ADCME · BAFME · Epilessia e mioclonia corticale autosomica dominante · Epilessia e tremore mioclonico corticale familiare · FAME · FCMTE
nl	Familiale adulte myoclonische epilepsie	ADCME · Autosomaal dominante corticale myoclonus en epilepsie · BAFME · FAME · FCMTE · Familiale corticale myoclonische tremor en epilepsie · Familiale myoclonusepilepsie bij volwassene · Goedaardige familiale myoclonusepilepsie op volwassen leeftijd
pt	Epilepsia mioclónica do adulto familiar	ADCME · BAFME · Epilepsia e mioclonia cortical autossómica dominante · Epilepsia e tremor mioclónico cortical familiar · Epilepsia mioclónica do adulto benigna familiar · FAME · FCMTE
pl	Łagodna rodzinna padaczka miokloniczna dorosłych	ADCME · Autosomalne dominujące korowe mioklonie i padaczka · BAFME · FAME · FCMTE · Rodzinna padaczka miokloniczna dorosłych · Rodzinne korowe miokloniczne drżenia i padaczka
cs	Benigní adultní familiární myoklonická epilepsie	ADCME · BAFME · FAME · FCMTE · Familiární adultní myoklonická epilepsie · Familiární kortikální myoklonický tremor a epilepsie · Autozomálně dominantní kortikální myoklonus a epilepsie
uk	Доброякісна сімейна міоклонічна епілепсія у дорослих	ADCME · Аутосомно-домінантний кортикальний міоклонус та епілепсія · BAFME · Доброякісна сімейна міоклонусна епілепсія у дорослих · СЛАВА · Сімейна міоклонічна епілепсія у дорослих · Сімейний кортикальний міоклонічний тремор та епілепсія · FCMTE
zh	良性成人家族性肌阵挛癫痫	常染色体显性遗传性皮质肌阵挛震颤性癫痫
tr	Selim erişkin ailesel miyoklonik epilepsi	FAME · ADCME · BAFME · FCMTE · Ailesel erişkin miyoklonik epilepsi · Selim erişkin ailesel miyoklonus epilepsisi · Ailesel kortikal miyoklonik tremor ve epilepsi · Otozomal dominant kortikal miyoklonus ve epilepsi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	601068	E		validated
OMIM	607876	BTNT		validated
OMIM	613608	BTNT		validated
OMIM	615127	BTNT		validated
OMIM	615400	BTNT		validated
OMIM	618074	BTNT		validated
OMIM	618075	BTNT		validated
ICD-10	G40.3	NTBT	attributed	validated
ICD-11	8A61.32	E	specific	validated
MONDO	0019448	E		validated
UMLS	C4273988	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (2):

ORPHA:306750Primary myoclonus
rare genetic diseases; rare neurological diseases
ORPHA:699645Variable age-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases

No children.

Genes

8 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ADRA2B	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:282	ENSG00000274286	104260	2q11.2	adrenoceptor alpha 2B	24114805[PMID]
CNTN2	Disease-causing germline mutation(s) in	Assessed	HGNC:2172	ENSG00000184144	190197	1q32.1	contactin 2	23518707[PMID]
CTNND2	Disease-causing germline mutation(s) in	Assessed	HGNC:2516	ENSG00000169862	604275	5p15.2	catenin delta 2	29127138[PMID]
MARCHF6	Disease-causing germline mutation(s) in	Assessed	HGNC:30550	ENSG00000145495	613297	5p15.2	membrane associated ring-CH-type finger 6	31664039[PMID]
RAPGEF2	Disease-causing germline mutation(s) in	Assessed	HGNC:16854	ENSG00000109756	609530	4q32.1	Rap guanine nucleotide exchange factor 2	29507423[PMID]
SAMD12	Disease-causing germline mutation(s) in	Assessed	HGNC:31750	ENSG00000177570	618073	8q24.11-q24.12	sterile alpha motif domain containing 12	29939203[PMID]
TNRC6A	Disease-causing germline mutation(s) in	Assessed	HGNC:11969	ENSG00000090905	610739	16p12.1	trinucleotide repeat containing adaptor 6A	29507423[PMID]_33040085[PMID]
YEATS2	Disease-causing germline mutation(s) in	Assessed	HGNC:25489	ENSG00000163872	613373	3q27.1	YEATS domain containing 2	31539032[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	2.8 / 100 000	Japan	Value and class	Validated	15508931[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

8 annotations · validated 2016-06-01

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

Run the differential on the 3 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/86814
This record as JSON: /data/d/86814.json