Genetic epilepsy with febrile seizure plus
ORPHA:36387DiseaseAutosomal dominantChildhood
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HCN1 | hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Disease-causing germline mutation(s) in | gene with protein product | 602780 |
| SLC32A1 | solute carrier family 32 member 1 | Disease-causing germline mutation(s) in | gene with protein product | 616440 |
| FGF13 | fibroblast growth factor 13 | Disease-causing germline mutation(s) in | gene with protein product | 300070 |
| SCN1A | sodium voltage-gated channel alpha subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 182389 |
| SCN1B | sodium voltage-gated channel beta subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 600235 |
| SCN2A | sodium voltage-gated channel alpha subunit 2 | Candidate gene tested in | gene with protein product | 182390 |
| SCN9A | sodium voltage-gated channel alpha subunit 9 | Candidate gene tested in | gene with protein product | 603415 |
| GABRD | gamma-aminobutyric acid type A receptor subunit delta | Candidate gene tested in | gene with protein product | 137163 |
| GABRG2 | gamma-aminobutyric acid type A receptor subunit gamma2 | Disease-causing germline mutation(s) in | gene with protein product | 137164 |
| STX1B | syntaxin 1B | Disease-causing germline mutation(s) in | gene with protein product | 601485 |
| CPA6 | carboxypeptidase A6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609562 |
| PRRT2 | proline rich transmembrane protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 614386 |
| ADGRV1 | adhesion G protein-coupled receptor V1 | Candidate gene tested in | gene with protein product | 602851 |
Фенотипы (HPO)28
Очень частый (80–99%)1
HP:0002197Generalized-onset seizure
Частый (30–79%)2
HP:0002121Generalized non-motor (absence) seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
Периодический (5–29%)13
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
HP:0002311Incoordination
HP:0002376Developmental regression
HP:0002539Cortical dysplasia
HP:0007010Poor fine motor coordination
HP:0007058Generalized cerebral atrophy/hypoplasia
HP:0010819Atonic seizure
HP:0010850EEG with spike-wave complexes
HP:0011151Obtundation status
HP:0100543Cognitive impairment
Очень редкий (1–4%)12
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0001337Tremor
HP:0001763Pes planus
HP:0002067Bradykinesia
HP:0002133Status epilepticus
HP:0002384Focal impaired awareness seizure
HP:0003066Limited knee extension
HP:0004684Talipes valgus
HP:0007359Focal-onset seizure
HP:0008770Obsessive-compulsive trait
HP:0100694Tibial torsion
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)