FFEVF - familial focal epilepsy with variable foci

disorder

SNOMED 764522009CUI C1858477

Overview

FFEVF - familial focal epilepsy with variable foci is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

EEG with focal epileptiform discharges

Very frequent (80-99%)HP:0011185

Focal seizures

Very frequent (80-99%)HP:0007359

Focal cortical dysplasia type II

Frequent (30-79%)HP:0032051

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Interictal EEG abnormality

Frequent (30-79%)HP:0025373

Nocturnal seizures

Frequent (30-79%)HP:0031951

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Behavioural disorders

Occasional (5-29%)HP:0000708

Cognitive deficits

Occasional (5-29%)HP:0100543

Deja vu aura

Occasional (5-29%)HP:0012005

Expressive aphasia

Occasional (5-29%)HP:0002427

Flushing

Occasional (5-29%)HP:0031284

Focal cortical dysplasia

Occasional (5-29%)HP:0032046

Focal cortical dysplasia type I

Occasional (5-29%)HP:0032047

Focal cortical dysplasia type IIa

Occasional (5-29%)HP:0032052

Focal seizure without impairment of awareness

Occasional (5-29%)HP:0002349

Hearing sounds

Occasional (5-29%)HP:0008765

Infantile spasms

Occasional (5-29%)HP:0012469

Localized dyscognitive seizure

Occasional (5-29%)HP:0002384

Low intelligence

Occasional (5-29%)HP:0001249

Multifocal EEG abnormality

Occasional (5-29%)HP:0010841

Pain

Occasional (5-29%)HP:0012531

Paleness

Occasional (5-29%)HP:0000980

Paresthesia

Occasional (5-29%)HP:0003401

Visual hallucination

Occasional (5-29%)HP:0002367

Hemimegalencephaly

Very rare (1-4%)HP:0007206

Hypsarrhythmia by EEG

Very rare (1-4%)HP:0002521

More grooves in brain

Very rare (1-4%)HP:0002126

Simple febrile seizures

Very rare (1-4%)HP:0011171

Epilepsy

HP:0001250

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Localisation-related epilepsy(parent)

Quick Facts

SNOMED CT: 764522009
UMLS CUI: C1858477
Fully Specified Name: Familial focal epilepsy with variable foci (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.