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Epilepsy with auditory features
Epilepsy with auditory features (EAF), formerly ADLTE or ADPEAF, is a focal epilepsy syndrome with auditory seizures or receptive aphasia from lateral temporal onset, onset typically age 10-30, linked to LGI1 and other genes.
Epilepsy with eyelid myoclonia
Epilepsy with eyelid myoclonia (EEM), formerly Jeavons syndrome, a rare childhood-onset genetic generalized reflex epilepsy with eyelid myoclonia, eye closure and light triggers, photosensitivity, female predominance, and frequent drug resistance.
Epilepsy with generalized tonic-clonic seizures alone
Epilepsy with generalized tonic-clonic seizures alone (EGTCS, GTCA), formerly GTCS on awakening, is a genetic generalized epilepsy syndrome with tonic-clonic seizures as the only seizure type, onset at 5–40 years, and mandatory 3–5.5 Hz spike-wave on EEG.
Epilepsy with myoclonic absences
Epilepsy with myoclonic absences (EMA, ORPHA:86911, ICD-11 8A61.23) is a rare childhood-onset generalized epilepsy with rhythmic 3-Hz myoclonic absence seizures, male predominance, and variable prognosis.
Epilepsy with myoclonic-atonic seizures
Epilepsy with myoclonic-atonic seizures (EMAtS, Doose syndrome, myoclonic-astatic epilepsy) is a rare childhood epilepsy syndrome with myoclonic-atonic drop seizures, 2-6 Hz spike-wave EEG, male predominance, and remission in about two thirds of children.
Epilepsy-mild cortical malformation-oligodendroglial hyperplasia
MOGHE (mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy) is an ILAE-recognized cause of childhood drug-resistant epilepsy, defined by white-matter heterotopic neurons, Olig2-positive oligodendroglial hyperplasia, and somatic SLC35A2 variants.
Epileptic encephalopathies
Epileptic encephalopathies, now often termed developmental and epileptic encephalopathies (DEE), are severe epilepsies in which seizures and EEG epileptiform activity themselves worsen cognition and development; classic syndromes include West, Dravet, Ohtahara, and Lennox-Gastaut.
Epileptic encephalopathy with global cerebral demyelination
Epileptic encephalopathy with global cerebral demyelination, also called AGC1 deficiency or EIEE 39 (OMIM 612949), is a rare SLC25A12 mitochondrial aspartate-glutamate carrier disorder causing infantile seizures, hypotonia, arrested development, cerebral hypomyelination, low NAA, treatable with ketogenic diet.
Episodic ataxia type 1
Episodic ataxia type 1 (EA1), a rare autosomal dominant potassium channelopathy from KCNA1 (Kv1.1) mutations on 12p13, causes brief ataxia attacks with interictal myokymia, childhood onset, and carbamazepine-responsive episodes.
Episodic ataxia type 4
Episodic ataxia type 4 (EA4, PATX, periodic vestibulocerebellar ataxia; OMIM 606552) is a very rare autosomal dominant hereditary episodic ataxia with adult onset, attacks of vertigo, diplopia, and ataxia, unknown gene, no acetazolamide response, and no myokymia.
Episodic ataxia type 5
Episodic ataxia type 5 (EA5, OMIM 613855) is an extremely rare autosomal dominant channelopathy caused by CACNB4 mutations at 2q22-23, with adult-onset attacks of vertigo and ataxia lasting hours, allelic with juvenile myoclonic epilepsy 6.
Episodic unilateral mydriasis
Episodic anisocoria (ICD-11 8D8A.2), also benign episodic unilateral mydriasis, is transient recurring unequal pupil size from abnormal autonomic tone, typically in young women with migraine, benign and a diagnosis of exclusion.
Episodic vestibular syndrome
Episodic vestibular syndrome (EVS), ICD-11 AB31, is transient vertigo, dizziness, or unsteadiness lasting seconds to days with remission between episodes; main causes are vestibular migraine, Meniere's disease, BPPV, vestibular paroxysmia, and TIA.
Epithelial basement membrane dystrophy
Epithelial basement membrane dystrophy (EBMD), also called map-dot-fingerprint or Cogan microcystic dystrophy, is a common bilateral anterior corneal dystrophy causing map, dot, and fingerprint lines, reduced vision, and recurrent corneal erosions in about 10% of patients.
Epithelial recurrent erosion dystrophy
Epithelial recurrent erosion dystrophy (ERED, OMIM 122400), also called Dystrophia Smolandiensis or recurrent hereditary corneal erosions, is a rare autosomal dominant COL17A1 corneal dystrophy causing painful corneal erosions from childhood that lessen by the fourth decade.
Erethism
Erethism (erethism mercurialis, mad hatter syndrome) is a neuropsychiatric syndrome of chronic mercury poisoning: shyness, irritability, memory loss, insomnia. Linked to mercuric nitrate in 19th-century hat felt making; term coined by John Pearson in 1805.
Essential myoclonus
Essential myoclonus, also called hereditary essential myoclonus and largely superseded by myoclonus-dystonia (SGCE), is nonprogressive, isolated myoclonus without secondary cause; ICD-11 8A06.0; treated with clonazepam or levetiracetam.
Essential tremor
Essential tremor (ET), also called benign essential or familial tremor, is the most common tremor disorder, causing bilateral action tremor of the hands, sometimes head or voice; treated with propranolol, primidone, topiramate, DBS, or focused ultrasound.
Esthesioneuroblastoma
Esthesioneuroblastoma (olfactory neuroblastoma) is a rare malignant neuroectodermal tumor of the olfactory epithelium in the superior nasal cavity, first described in 1924, staged by the Kadish system, graded by Hyams, and treated mainly with surgery plus radiation.
Euthyroid Graves orbitopathy
Euthyroid Graves orbitopathy is thyroid eye disease, an autoimmune orbital inflammation, occurring without any current or past thyroid dysfunction; it is rare, about 10% of Graves' orbitopathy.
Eversion of lacrimal punctum
Eversion of lacrimal punctum (punctal ectropion, ICD-11 9A11.0, 涙点の反転) is outward rotation of the tear-drainage opening away from the tear lake, causing epiphora and, chronically, punctal stenosis; treated with medial spindle or punctoplasty.
Ex-vacuo hydrocephalus
Ex-vacuo hydrocephalus (hydrocephalus ex vacuo, ICD-11 8D64.2) is ventricular enlargement from brain tissue loss, not raised CSF pressure; causes include stroke, injury, and atrophy, and it must be distinguished from treatable normal pressure hydrocephalus.
Excessive daytime sleepiness
Excessive daytime sleepiness, also called excessive daytime somnolence, is the inability to stay awake and alert during the day's main waking hours, most often caused by obstructive sleep apnea.
Exertional dizziness
Exertional dizziness (ICD-11 MB48.2), dizziness triggered by physical exertion; also called exertional vertigo. Causes include autonomic dysregulation, cardiac disease during exercise, and benign post-exercise postural hypotension.
Exploding head syndrome
Exploding head syndrome (EHS), also called episodic cranial sensory shock, is a benign parasomnia of sudden painless loud noises at sleep-wake transitions, first described in 1876, with variable prevalence and reassurance-based management.
Expressive aphasia
Expressive aphasia, also called Broca's aphasia or motor aphasia, is a nonfluent aphasia from left frontal lobe damage, with effortful telegraphic speech, relatively spared comprehension, and treatment by speech-language therapy.
Extraneural perineurioma
Extraneural perineurioma, or soft tissue perineurioma (ORPHA:100002), is a rare benign peripheral nerve sheath tumor of perineurial cells, EMA-positive and S100-negative, arising in subcutis of extremities or trunk, cured by excision.
Extraventricular neurocytoma
Extraventricular neurocytoma (EVN), a rare WHO grade 2 neuronal brain tumor arising outside the ventricles, distinct from central neurocytoma; treated by gross total resection, marked by FGFR1-TACC1 fusion, with 5-year survival about 90%.
Exudative retinopathy
Exudative retinopathy (exudative retinal detachment, ICD-10 H35.02, ICD-11 9B78.11) is subretinal fluid accumulation from blood-retinal barrier breakdown without retinal breaks; causes include uveitis, Coats disease, FEVR, tumors, and hypertension.
Eye disease
An eye disease, also called an eye condition, is any condition that damages the eye or surrounding tissues and impairs vision, from conjunctivitis to cataract and glaucoma.