Epilepsy Neurological Disorder

name	description	evidence
Eyelid Myoclonia with Absences (EMA)	The most common presentation, characterized by eyelid myoclonia with or without absences.	TRUNCATED
Eyelid Myoclonia with Absences and Photosensitivity (EMA+)	Eyelid myoclonia with absences that are consistently provoked by photic stimulation.	TRUNCATED

0

subtype

Eyelid Myoclonia with Absences

population

Global

percentage

0.0001

evidence

reference	supports	snippet	explanation
PMID:32554361	REFUTE	It is thought to be underdiagnosed rather than have a rare prevalence.	The literature suggests that Jeavons syndrome is underdiagnosed instead of being extremely rare, indicating a higher prevalence than 0.0001%.
PMID:19469840	REFUTE	Eyelid myoclonia with absences (EMA), or Jeavons syndrome, is a generalized epileptic condition clinically characterized by eyelid myoclonia (EM) with or without absences, eye closure-induced electroencephalography (EEG) paroxysms, and photosensitivity; in addition, rare tonic-clonic seizures may also occur.	The reference discusses Jeavons syndrome as a clinically characterized condition without specifying an extremely low prevalence, opposing the suggested figure of 0.0001%.

0

phase

Onset

subtype

Eyelid Myoclonia with Absences

age_range

2-14

evidence

reference	supports	snippet	explanation
PMID:26492104	SUPPORT	Jeavons syndrome (JS, eyelid myoclonia with absences [EMA]) consists of a triad of symptoms including eyelid myoclonia that may be accompanied by absence seizures, eye closure-induced EEG paroxysms or seizures, and photosensitivity. The age of onset ranges between 2 and 14 years with symptoms peaking between 6 and 8 years of age.	The literature clearly states that the age of onset for Jeavons Syndrome is between 2 and 14 years, matching the provided age range and phase definition in the statement.
PMID:32554361	SUPPORT	The mean age at seizure onset was 8.7+/-5.3 years and the mean age at admission to hospital was 17.8+/-10.7 years.	This study provides data supporting the age range for seizure onset in Jeavons Syndrome patients, with a mean age of onset fitting within the range of 2 to 14 years.

0

name

Complex Genetic Predisposition

description

A complex genetic basis involving multiple genes contributes to susceptibility.

evidence

reference	supports	snippet	explanation
PMID:30082241	SUPPORT	Jeavons syndrome is an underreported epileptic syndrome characterized by eyelid myoclonia, eyelid closure-induced seizures or electroencephalography paroxysms, and photosensitivity. Drug-resistant epilepsy is common, but the prognostic factors and clinical course leading to drug resistance have not been well characterized.	The abstract discusses drug resistance without specifying a particular genetic basis, but it does imply complexity by mentioning the variability in response to treatments and presence of multiple seizure types.

1

name

Neuronal Hyperexcitability

description

Neurons in the brain exhibit increased excitability, particularly in response to visual stimuli.

cell_types

• Excitatory Glutamatergic Neuron

evidence

reference	supports	snippet	explanation
PMID:21729035	PARTIAL	We observed two neurophysiologic findings in JS: (1) focal interictal EDs from posterior head region; and (2) predominant focal posterior ictal EDs preceding generalized EDs.	While the study supports an increased excitability of neurons in response to visual stimuli (such as photic stimulation), it does not specifically identify excitatory glutamatergic neurons as the key cell type involved.
PMID:31444362	NO_EVIDENCE	The transition from a preictal state to a generalized seizure leads to an abrupt increase in neural activity and connectivity, which is accompanied by a strong alteration in glia-neuron interactions and a massive increase in extracellular glutamate.	This study discusses neural activity and connectivity alterations and increased extracellular glutamate during seizures but does not specifically associate these findings with Jeavons Syndrome.

2

name

Disrupted Cortical Function

description

Disruptions in normal brain function, especially in the visual cortex and thalamus, leading to seizures.

evidence

reference	supports	snippet	explanation
PMID:21729035	PARTIAL	JS has been proposed as idiopathic generalized epilepsy (IGE) because of normal posterior dominant background activity and paroxysmal generalized ictal epileptiform discharges (EDs). However, we noticed subtle occipital EDs preceding EM and interictal posterior EDs using digital video-EEG... Further clinical observations of seizures induced by eye closure, photic stimulation, and hyperventilation along with EEG paroxysms would raise the possibility of the occipital cortex initiating generalized epilepsy network involving the brainstem, and thalamocortical and transcortical pathways in JS.	The literature indicates involvement of the occipital cortex and mentions generalized epilepsy networks, which may include the thalamus. However, it does not explicitly support the claim that disruptions in the visual cortex and thalamus are the predominant mechanisms in Jeavons Syndrome.
PMID:29880477	NO_EVIDENCE	Largely accepted in the literature is the role the interconnections between the thalamus and cortex play in generalized epilepsy. However, thalamocortical involvement is less understood in focal epilepsy in terms of the effect of seizures on thalamocortical circuitry in the developing brain and subsequent cognitive outcome.	This study discusses the role of thalamocortical connections in generalized and focal epilepsy but does not provide specific information on Jeavons Syndrome or its mechanisms.

locations

• Visual Cortex
• Thalamus

0

category

Neurologic

name

Eyelid Myoclonia

frequency

VERY_FREQUENT

diagnostic

True

sequelae

Impaired Visual Functioning During Episodes Social Stigma

evidence

reference	supports	snippet	explanation
PMID:32554361	SUPPORT	Jeavons syndrome (JS) is mainly characterized by eyelid myoclonia with or without absences.	The literature supports the neurologic diagnostic of eyelid myoclonia as a high frequency phenotype of Jeavons Syndrome (JS).
PMID:30685520	SUPPORT	Eyelid myoclonia, the most common seizure type in all 8 patients, were typically initiated by eating or other simple orofacial stimuli.	This study confirms that eyelid myoclonia is a common and significant phenotype of JS, reinforcing the diagnostic.
PMID:31015102	SUPPORT	Eyelid myoclonia with absences (EMA) is an epileptic syndrome characterized by eyelid myoclonia with or without absences, eyes closure-induced EEG paroxysms and photosensitivity.	The literature further supports eyelid myoclonia with visual impairment during episodes as a phenotype of JS.
PMID:36216271	SUPPORT	To the best of our knowledge, this is the first case of STAG2 encephalopathy fulfilling all electroclinical criteria for epilepsy with eyelid myoclonia and absences (EMA), formally named Jeavons syndrome (JS).	It confirms the diagnostic frequency of eyelid myoclonia as a defining characteristic of JS.
PMID:14706039	PARTIAL	Seizures induced by photic (or visual) stimuli or photosensitive seizures can be observed in generalized or focal, idiopathic, or symptomatic epilepsies...	While photosensitivity is discussed, the specific association with eyelid myoclonia and its sequelae in JS is not the main focus.

1

category

Neurologic

name

Absences

frequency

VERY_FREQUENT

evidence

reference	supports	snippet	explanation
PMID:26492104	SUPPORT	Jeavons syndrome (JS, eyelid myoclonia with absences [EMA]) consists of a triad of symptoms including eyelid myoclonia that may be accompanied by absence seizures, eye closure-induced EEG paroxysms or seizures, and photosensitivity.	The literature explicitly mentions that absences are part of the symptom triad in Jeavons syndrome, supporting the statement.
PMID:15508923	SUPPORT	Eyelid myoclonia and absence.	The literature provides a title indicating a connection between eyelid myoclonia (a feature of Jeavons Syndrome) and absences, further supporting the statement.

2

category

Neurologic

name

Generalized Tonic-Clonic Seizures

frequency

OCCASIONAL

evidence

reference	supports	snippet	explanation
PMID:30082241	PARTIAL	After a median follow-up of two years, 80% of patients had drug-resistant epilepsy and 70% experienced generalized tonic-clonic seizures.	The statement is partially supported because generalized tonic-clonic seizures occur in 70% of patients, which suggests a high frequency rather than 'occasional'.

3

category

Cognitive

name

Mild Cognitive Impairment

frequency

OCCASIONAL

evidence

reference	supports	snippet	explanation
PMID:26492104	PARTIAL	All participants completed neuropsychological evaluations. Statistical analyses revealed performance that was below average on measures of global IQ, processing speed and rote, verbal learning coupled with average nonverbal reasoning, and sustained attention. There was also evidence of impaired higher-level verbal reasoning. While global IQ ranged from low average to borderline impaired, no participant could be accurately described as impaired or having intellectual disability (ID) given the consistently average performance noted on some higher-order tasks including nonverbal reasoning.	The literature supports that there are cognitive impairments in Jeavons syndrome, but it does not explicitly classify these impairments as 'mild cognitive impairment' (MCI) nor does it mention the frequency as 'occasional'. The impairments are more specific and varied, making the statement partially correct but not completely accurate.

0

name

CHD2

evidence

reference	supports	snippet	explanation
PMID:26262932	PARTIAL	Conversely, CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity, which might overlap with MAE, Lennox-Gastaut, Dravet, and Jeavons syndromes.	The literature indicates that CHD2 mutations may overlap with phenotypes seen in Jeavons Syndrome, but it does not specifically state a direct genetic association exclusive to Jeavons Syndrome.

association

Associated

1

name

GABRA1

evidence

reference	supports	snippet	explanation
PMID:14631097	REFUTE	An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family.	The abstract does not mention Jeavons syndrome and focuses on juvenile myoclonic epilepsy related to GABRA1 mutations in a different population.
PMID:30082241	NO_EVIDENCE	We identified 30 patients who met the diagnostic criteria of Jeavons syndrome at a single institution...	The study focuses on clinical features and treatment response in Jeavons syndrome without mentioning GABRA1 or a genetic association.
PMID:20074235	NO_EVIDENCE	We have created the Epilepsy Genetic Association Database (epiGAD)...	The database mentions epilepsy genetic association studies but does not specifically address Jeavons syndrome or GABRA1.

association

Associated

2

name

SLC2A1

evidence

reference	supports	snippet	explanation
PMID:28419980	REFUTE	We did not detect any pathogenic mutations in SLC2A1 in this cohort. Our data suggests that the frequency of GLUT1 mutations in NAFE is low.	The study indicates that no pathogenic mutations in SLC2A1 were found in the cohort, suggesting a low frequency of association with certain types of epilepsy, including Jeavons syndrome.

association

Associated

0

name

Photic Stimulation

evidence

reference	supports	snippet	explanation
PMID:32861158	SUPPORT	Spikes/spike-waves time-locked to the flash frequency during intermittent light stimulation in Jeavons syndrome.	This study indicates that flashing lights (photic stimulation) are associated with spikes and spike-waves in individuals with Jeavons syndrome, supporting the statement.
PMID:14706039	PARTIAL	In addition to this 'transversal' presence of the photosensitive trait across various epilepsy types and diseases, some syndromes in which all, or almost all, seizures are induced by photic stimuli seem to have sufficient specificity and may be considered as syndromes of pure reflex photosensitive epilepsy.	The study broadly discusses photosensitive epilepsy and its triggers but does not focus solely on Jeavons Syndrome. It implies a possible link but does not confirm the statement definitively.
PMID:26492104	SUPPORT	Jeavons syndrome (JS, eyelid myoclonia with absences [EMA])... includes photosensitivity... and seizures may be induced by eye closure or visual stimuli.	This reference indicates that visual stimuli, including photic stimulation, can trigger seizures in Jeavons syndrome, thereby supporting the statement.
PMID:28508035	NO_EVIDENCE	'We propose that flashing light stimuli can be used as an experimental tool to investigate the visual function and plasticity of neuronal representations and perception after a critical period of neocortical plasticity.'	This study discusses the effects of flashing lights on visual perception and plasticity but does not directly relate to Jeavons Syndrome or its triggering factors.

synonyms

Flashing Lights

effect

Triggering Factor

1

name

Sleep Deprivation

evidence

reference	supports	snippet	explanation
PMID:28314522	SUPPORT	This study demonstrates that photosensitivity is enhanced after awakening from a short sleep following sleep deprivation. Thus, we recommend performing IPS after awakening to increase sensitivity to detect photoparoxysmal epileptiform discharges.	This reference indicates that sleep deprivation can enhance photosensitivity in patients, which can be a symptom exacerbation in conditions like Jeavons Syndrome, where photosensitivity is a significant factor.
PMID:26492104	PARTIAL	Jeavons syndrome (JS, eyelid myoclonia with absences [EMA]) ... Though investigation of the clinical, EEG, and neurological features of JS has occurred, neurocognitive functioning has not been well-delineated despite suggestion that a subtype of the syndrome is characterized in part by cognitive impairment.	This reference focuses on the clinical and neurocognitive aspects of Jeavons Syndrome, not directly on environmental factors such as sleep deprivation. However, it does discuss general exacerbation of symptoms which indirectly hints at possible influences.

effect

Exacerbates Symptoms

0

name

Valproic Acid

description

First-line treatment, effective in controlling seizures in many patients.

evidence

reference	supports	snippet	explanation
PMID:6771426	PARTIAL	Valproic acid, used alone or in combination with other anticonvulsants in 100 children with epilepsy, improved seizure control in all age groups.	The reference supports the efficacy of Valproic Acid in controlling seizures, but it does not specifically mention Jeavons Syndrome or describe it as a first-line treatment.
PMID:11393330	PARTIAL	Valproic acid controls absences in 75% of patients and also GTCS (70%) and myoclonic jerks (75%); however, it may be undesirable for some women.	Valproic acid is mentioned as effective in controlling certain types of seizures common in Jeavons Syndrome (myoclonic jerks), but again it does not specifically refer to Jeavons Syndrome or define it as first-line treatment.

role

Anticonvulsant

1

name

Ethosuximide

description

May be used as an alternative or adjunctive therapy.

evidence

reference	supports	snippet	explanation
PMID:17627674	PARTIAL	Ethosuximide has a narrow therapeutic profile. It is the drug of choice in the monotherapy or combination therapy of children with generalized absence (petit mal) epilepsy.	The reference supports the use of ethosuximide as a treatment for generalized absence epilepsy, which is related to Jeavons syndrome. However, it does not provide specific evidence for its use as an alternative or adjunctive therapy specifically for Jeavons syndrome.

role

Anticonvulsant

2

name

Levetiracetam

description

May be used as an alternative or adjunctive therapy.

evidence

reference	supports	snippet	explanation
PMID:24798222	SUPPORT	This case together with relevant literature data supports the view that the use of levetiracetam might be of benefit for female patients with Jeavons syndrome.	The literature mentions the use of levetiracetam resulting in clinical remission for a patient with Jeavons syndrome.
PMID:20486734	SUPPORT	The efficacy of levetiracetam as an adjunctive therapy and as monotherapy for generalized and partial childhood epilepsies and for some types of specific epileptic syndromes of infancy and childhood (such as juvenile myoclonic epilepsy, benign rolandic epilepsy, and Jeavon syndrome) has been demonstrated.	The literature highlights that levetiracetam can be used as both adjunctive therapy and monotherapy for Jeavons Syndrome among other epileptic syndromes.

role

Anticonvulsant

3

name

Avoidance of Provocative Stimuli

description

Patients should avoid photic stimulation that may trigger seizures, such as flickering lights.

evidence

reference	supports	snippet	explanation
PMID:14706045	PARTIAL	Visually provoked seizures, in particular, can be prevented or treated by avoiding or altering the triggering stimulus. Apart from individual preventive measures (use of specific television or video screens, colored glasses, etc.), prevention and warning on a larger scale are helpful.	The literature mentions that avoidance of visually provoking stimuli, like flickering lights, can help in managing photosensitive seizures, though it does not specifically mention Jeavons Syndrome.
PMID:22946728	PARTIAL	Recognized reflex seizure triggers are usually sensory and visual, such as television, discotheques, and video games.	This article suggests that visually evoked seizures can be triggered by stimuli like flickering lights, but it does not specifically address Jeavons Syndrome.
PMID:32861158	SUPPORT	Spikes/spike-waves time-locked to the flash frequency during intermittent light stimulation in Jeavons syndrome.	This directly supports that photic stimulation, such as flickering lights, can trigger seizures in patients with Jeavons Syndrome.
PMID:29555355	SUPPORT	Self-induced seizures were predominantly eyelid myoclonia +/- absences... EEG demonstrated a normal background with 3-4 Hz spike waves +/- polyspike waves as well as a photoparoxysmal response.	This reference indicates that photic stimulation can induce seizures in patients with Jeavons Syndrome, thus supporting the need to avoid such stimuli.

4

name

Avoidance of Triggering Stimuli

description

Minimizing exposure to known triggers such as flashing lights or sleep deprivation.

evidence

reference	supports	snippet	explanation
PMID:30082241	NO_EVIDENCE	The study focuses on the clinical features, drug-resistance, and treatment responses to antiepileptic drugs in Jeavons syndrome. It does not discuss non-pharmacological treatments like minimizing exposure to triggers.	The reference does not provide relevant information on the efficacy of minimizing exposure to flashing lights or sleep deprivation as a treatment strategy.
PMID:32861158	NO_EVIDENCE	The study details spikes/spike-waves time-locked to flash frequency during intermittent light stimulation in Jeavons syndrome but does not mention strategies like avoiding flashing lights or sleep deprivation as treatment.	The focus is on the relationship between light stimulation and EEG patterns in Jeavons syndrome, with no mention of avoidance of triggers as a treatment method.
PMID:16241971	PARTIAL	Avoidance of obvious sources and stimulus modifications are very important and useful to seizure prevention in photosensitive epilepsy.	The reference mentions the importance of avoiding seizure triggers in photosensitive epilepsy, which could be applicable to Jeavons syndrome due to its photosensitive nature, though it does not explicitly mention Jeavons syndrome.

5

name

Sunglasses or Blue Light Filtering Glasses

description

Wear to reduce light sensitivity and potentially prevent seizures.

evidence

reference	supports	snippet	explanation
PMID:14706045	NO_EVIDENCE	Visually provoked seizures, in particular, can be prevented or treated by avoiding or altering the triggering stimulus. Apart from individual preventive measures (use of specific television or video screens, colored glasses, etc.), prevention and warning on a larger scale are helpful.	This reference mentions using colored glasses but does not specifically mention sunglasses or blue light filtering glasses for Jeavons syndrome.
PMID:30082241	NO_EVIDENCE	We reviewed and described the epilepsy history, antiepileptic drug trials, and response to treatments.	This study focuses on drug treatments and does not mention sunglasses or blue light filtering glasses.
PMID:26552567	NO_EVIDENCE	Jeavons syndrome as an occipital cortex initiated generalized epilepsy.	The reference discusses the occipital cortex's role in Jeavons syndrome but does not mention sunglasses or blue light filtering glasses as a treatment.
PMID:32861158	NO_EVIDENCE	Spikes/spike-waves time-locked to the flash frequency during intermittent light stimulation in Jeavons syndrome.	This reference discusses EEG characteristics in Jeavons syndrome without mentioning sunglasses or blue light filtering glasses as a treatment.

0

name

EEG with Generalized Spike-and-Wave Patterns

presence

Positive

evidence

reference	supports	snippet	explanation
PMID:22931943	SUPPORT	Ictal EEG showed 3 - 6 Hz generalized spike and waves and polyspikes burst.	The literature supports that the diagnosis of Jeavons Syndrome includes the presence of generalized spike-and-wave patterns in EEG.