ORPHA:98820

Familial focal epilepsy with variable foci

Synonyms: FFEVF · Familial partial epilepsy with variable foci

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adolescent, Adult, Childhood, Infancy
Status: active

Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial focal epilepsy with variable foci	FFEVF · Familial partial epilepsy with variable foci
fr	Epilepsie focale familiale à foyers variables	Epilepsie partielle familiale à foyers variables · FFEVF
de	Familiäre fokale Epilepsie mit variablen Herden
es	Epilepsia focal familiar con focos variables	Epilepsia parcial familiar con focos variables · FFEVF
it	Epilessia focale familiare a focali variabili
nl	Familiale focale epilepsie met variabele foci	FFEVF · Familiale partiële epilepsie met variabele foci
pt	Epilepsia parcial familiar com focos variáveis
pl	Rodzinna ogniskowa padaczka ze zmiennymi ogniskami	FFEVF · Rodzinna częściowa padaczka ze zmiennymi ogniskami
cs	Familiární fokální epilepsie s variabilními ložisky	FFEVF · Familiární parciální epilepsie s variabilními ložisky
uk	Сімейна фокальна епілепсія зі змінними вогнищами	Сімейна парціальна епілепсія зі змінними вогнищами · FFEVF
zh	病灶多变的家族性局灶性癫痫	病灶可变的家族性部分性癫痫
tr	Değişken odaklar ile seyreden ailesel fokal epilepsi	FFEVF · Değişken odaklı ailesel kısmi epilepsi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	604364	BTNT		validated
OMIM	617116	BTNT		validated
OMIM	617118	BTNT		validated
OMIM	617935	BTNT		validated
ICD-10	G40.0	NTBT	attributed	validated
ICD-11	8A61.4Y	NTBT	index	validated
MONDO	0020310	E		validated
UMLS	C1858477	E		validated
GARD	13295	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 (1):

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

No children.

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DEPDC5	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18423	ENSG00000100150	614191	22q12.2-q12.3	DEP domain containing 5, GATOR1 subcomplex subunit	23542697[PMID]_23542701[PMID]
NPRL2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24969	ENSG00000114388	607072	3p21.31	NPR2 like, GATOR1 complex subunit	26505888[PMID]_27173016[PMID]
NPRL3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:14124	ENSG00000103148	600928	16p13.3	NPR3 like, GATOR1 complex subunit	26505888[PMID]_27173016[PMID]
SCN3A	Disease-causing germline mutation(s) in	Assessed	HGNC:10590	ENSG00000153253	182391	2q24.3	sodium voltage-gated channel alpha subunit 3	29466837[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		76 cases	Worldwide	Case(s)	Validated	14510823[PMID]_15329069[PMID]_22780917[PMID]_24814846[PMID]_25623524[PMID]_27066565[PMID]_32848577[PMID]_26505888[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	14510823[PMID]_15329069[PMID]_22780917[PMID]_24814846[PMID]_25623524[PMID]_27066565[PMID]_32848577[PMID]_26505888[PMID]_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

26 annotations · validated 2021-03-29

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0011185	EEG with focal epileptiform discharges
HP:0007359	Focal-onset seizure
Frequent (79-30%)
HP:0002069	Bilateral tonic-clonic seizure
HP:0025373	Interictal EEG abnormality
HP:0031951	Nocturnal seizures
Occasional (29-5%)
HP:0000708	Atypical behavior
HP:0008765	Auditory hallucinations
HP:0000729	Autistic behavior
HP:0100543	Cognitive impairment
HP:0012005	Deja vu
HP:0031284	Flushing
HP:0002349	Focal aware seizure
HP:0032046	Focal cortical dysplasia
HP:0002384	Focal impaired awareness seizure
HP:0012469	Infantile spasms
HP:0001249	Intellectual disability
HP:0002427	Motor aphasia
HP:0010841	Multifocal epileptiform discharges
HP:0012531	Pain
HP:0000980	Pallor
HP:0003401	Paresthesia
HP:0002367	Visual hallucinations
Very rare (<4-1%)
HP:0007206	Hemimegalencephaly
HP:0002521	Hypsarrhythmia
HP:0002126	Polymicrogyria
HP:0011171	Simple febrile seizure

Run the differential on the 2 obligate / very frequent terms

Annotation source: 27683934[PMID]_30767899[PMID]_28170089[PMID]_10825362[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/98820
This record as JSON: /data/d/98820.json