ORPHA:293181
Epilepsy of infancy with migrating focal seizures
Synonyms: EIMFS · Epilepsy with migrating focal seizure in infancy · MMPEI · MMPSI · MPEI · MPSI · Malignant migrating partial epilepsy of infancy · Malignant migrating partial seizures of infancy · Migrating partial epilepsy of infancy · Migrating partial seizures of infancy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epilepsy of infancy with migrating focal seizures | EIMFS · Epilepsy with migrating focal seizure in infancy · MMPEI · MMPSI · MPEI · MPSI · Malignant migrating partial epilepsy of infancy · Malignant migrating partial seizures of infancy · Migrating partial epilepsy of infancy · Migrating partial seizures of infancy |
| fr | Epilepsie du nourrisson avec crises focales migrantes | EIMFS · Epilepsie avec crises partielles migrantes malignes · Epilepsie focale migrante · Epilepsie partielle migrante · MMPEI · MMPSI · MPEI · MPSI |
| de | Maligne migrierende Partialepilepsie des Kindes | MPEI · MPSI · Partialepilepsie, infantile maligne migrierende · Säuglingsepilepsie mit wandernden Teilanfällen · EIMFS · Epilepsie im Kindesalter mit wandernden fokalen Anfällen · MMPEI · MMPSI |
| es | Epilepsia del lactante con crisis focales migratorias | Crisis parciales migratorias del lactante · Crisis parciales migratorias malignas del lactante · EIMFS · Epilepsia con crisis focales migratorias del lactante · Epilepsia de la infancia con crisis focales migratorias · Epilepsia parcial migratoria del lactante · Epilepsia parcial migratoria maligna del lactante |
| it | Epilessia infantile con convulsioni parziali migranti | Convulsioni parziali migranti maligne dell'infanzia · Epilessia parziale migrante dell'infanzia · MPEI · MPSI · EIMFS · Epilessia dell'infanzia con convulsioni focali migranti · Epilessia con convulsioni focali migranti nell'infanzia · MMPEI · MMPSI · Epilessia parziale migrante maligna dell'infanzia · Convulsioni parziali migranti dell'infanzia · Epilessia con convulsioni parziali migranti dell'infanzia |
| nl | Epilepsie bij zuigeling met migrerende focale insulten | EIMFS · Epilepsie met migrerende focale epileptische aanvallen op zuigelingenleeftijd · MMPEI · MMPSI · MPEI · MPSI · Maligne migrerende partiële epilepsie op zuigelingenleeftijd · Maligne migrerende partiële insulten op zuigelingenleeftijd · Migrerende partiële epilepsie op zuigelingenleeftijd · Migrerende partiële epileptische aanvallen op zuigelingenleeftijd |
| pt | Convulsões focais migratórias malignas da infância | Convulsões parciais migratórias da infância · Convulsões parciais migratórias malignas da infância · Epilepsia parcial migratória da infância · Epilepsia parcial migratória maligna da infância · MPEI · MPSI |
| pl | Padaczka niemowlęca z napadami ogniskowymi wędrującymi | Migrująca padaczka częściowa niemowląt · Migrujące napady częściowe niemowląt · MMPEI · MMPSI · MPEI · MPSI · Złośliwa migrująca padaczka częściowa niemowląt |
| cs | Maligní migrující parciální záchvaty u kojenců | MMPEI · MMPSI · MPEI · MPSI · Maligní migrující parciální epilepsie u kojenců · Migrující parciální epilepsie u kojenců · Migrující parciální záchvaty u kojenců |
| uk | Злоякісні мігруючі фокальні судоми у немовлят | Дитяча епілепсія з мігруючими фокальними нападами · Злоякісна мігруюча парціальна епілепсія дитячого віку · Злоякісні мігруючі парціальні епілептичні напади немовлят · Мігруюча парціальна епілепсія немовлят · Мігруючі парціальні напади у немовлят · MMPEI · MMPSI · MPEI · MPSI |
| zh | 婴儿期恶性迁移性灶性癫痫 | 婴儿期恶性迁移性灶性惊厥 |
| tr | Süt çocuğunda habis göç eden fokal nöbetler | MPEI · MPSI · MMPEI · MMPSI · Gezici bebeklik döneminin kısmi epilepsisi · Gezici bebeklik döneminin kısmi nöbetleri · Habis gezici kısmi bebeklik epilepsisi · Habis gezici kısmi bebeklik nöbetleri · Gezici fokal nöbetler ile seyreden bebeklik epilepsisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613722 | BTNT | validated | |
| OMIM | 614959 | BTNT | validated | |
| OMIM | 615338 | BTNT | validated | |
| OMIM | 616645 | BTNT | validated | |
| ICD-10 | G40.0 | NTBT | attributed | validated |
| ICD-11 | 8A61.12 | E | specific | validated |
| MONDO | 0017385 | E | validated | |
| UMLS | C3494976 | E | validated | |
| GARD | 12919 | E | validated | |
| MedDRA | 10086114 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:182083Channelopathy with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98744Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
rare genetic diseases
No children.
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNT1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:18865 | ENSG00000107147 | 608167 | 9q34.3 | potassium sodium-activated channel subfamily T member 1 | 23086397[PMID] |
| SLC12A5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13818 | ENSG00000124140 | 606726 | 20q13.12 | solute carrier family 12 member 5 | 26333769[PMID] |
| TBC1D24 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29203 | ENSG00000162065 | 613577 | 16p13.3 | TBC1 domain family member 24 | 23526554[PMID] |
| KCNQ2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6296 | ENSG00000075043 | 602235 | 20q13.33 | potassium voltage-gated channel subfamily Q member 2 | 31618474[PMID] |
| PIGA | Disease-causing germline mutation(s) in | Assessed | HGNC:8957 | ENSG00000165195 | 311770 | Xp22.2 | phosphatidylinositol glycan anchor biosynthesis class A | 31618474[PMID] |
| PLCB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15917 | ENSG00000182621 | 607120 | 20p12.3 | phospholipase C beta 1 | 22690784[PMID] |
| SCN1A | Disease-causing germline mutation(s) in | Assessed | HGNC:10585 | ENSG00000144285 | 182389 | 2q24.3 | sodium voltage-gated channel alpha subunit 1 | 21555645[PMID]_20301494[PMID] |
| SCN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:10588 | ENSG00000136531 | 182390 | 2q24.3 | sodium voltage-gated channel alpha subunit 2 | 31618474[PMID] |
| SLC25A22 | Disease-causing germline mutation(s) in | Assessed | HGNC:19954 | ENSG00000177542 | 609302 | 11p15.5 | solute carrier family 25 member 22 | 24596948[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 114 cases | Worldwide | Case(s) | Validated | 19469847[PMID]_23086397[PMID]_23599387[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_235999387[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.11 / 100 000 | United Kingdom | Value and class | Validated | 23599387[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | United Kingdom | Value and class | Validated | 235999387[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
25 annotations · validated 2023-01-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002376 | Developmental regression | |
| HP:0004302 | Functional motor deficit | |
| HP:0002540 | Inability to walk | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0012758 | Neurodevelopmental delay | |
| Frequent (79-30%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0002059 | Cerebral atrophy | |
| HP:0010821 | Focal emotional seizure with laughing | |
| HP:0006813 | Focal hemiclonic seizure | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0032794 | Myoclonic seizure | |
| Occasional (29-5%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0031834 | Aortopulmonary collateral arteries | |
| HP:0012448 | Delayed myelination | |
| HP:0011097 | Epileptic spasm | |
| HP:0001508 | Failure to thrive | |
| HP:0001276 | Hypertonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002650 | Scoliosis | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0000826 | Precocious puberty | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 34114611[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293181
- This record as JSON: /data/d/293181.json