Eyelid myoclonia with absences in monozygotic twins

Adachi, Masao; Inoue, Tomoko; Tsuneishi, Syuichi; Takada, Satoshi; Nakamura, Hajime

doi:10.1111/j.1442-200x.2005.02065.x

Cited by 24 publications

(29 citation statements)

References 8 publications

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“…A family history of epilepsy with varying degrees of familiarity was present in 55% of these patients with pure EMA, which was similar to prior reports [8,17,20,[48][49][50]. Fifteen (50%) patients had mental problems ranging from learning difficulties and memory impairment to mental retardation, as shown previously in literature [3,6,16,33,51].…”

Section: Discussionsupporting

confidence: 89%

Eyelid myoclonia seizures in adults: An alternate look at the syndrome paradox

Senol

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2015

Epilepsy & Behavior

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Section: Discussionsupporting

confidence: 89%

Eyelid myoclonia seizures in adults: An alternate look at the syndrome paradox

Senol

Tezer

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2015

Epilepsy & Behavior

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“…EMA is believed to have a genetic etiology (Giannakodimos & Panayiotopoulos, 1996a; Parker et al., 1996; Striano et al., 2002; Adachi et al., 2005; Yang et al., 2008; Capovilla et al., 2009; Caraballo et al., 2009). Little is known about the family history of seizures in probands with EMA.…”

Section: Discussionmentioning

confidence: 99%

“…Evidence for a genetic basis for EMA has been drawn from studies describing concordant monozygotic twins and epilepsy in relatives of patients with EMA (Giannakodimos & Panayiotopoulos, 1996a; Parker et al., 1996; Striano et al., 2002; Adachi et al., 2005; Yang et al., 2008; Caraballo et al., 2009). In general, studies have obtained the familial information from the index case rather than by explicitly studying each family member (Giannakodimos & Panayiotopoulos, 1996a; Striano et al., 2002; Capovilla et al., 2009; Caraballo et al., 2009).…”

mentioning

confidence: 99%

Family studies of individuals with eyelid myoclonia with absences

et al. 2012

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SUMMARYPurpose: Eyelid myoclonia with absences (EM) is an uncommon type of absence seizure associated with a variety of epilepsy syndromes. The syndrome of epilepsy with EM (EMA) has been proposed to denote the onset of frequent EM induced by eye closure and photic stimulation beginning in childhood. The clinical genetics of EMA has not been well characterized, although a family history of seizures is not infrequent. Methods: Individuals with EMA were ascertained by referral and through the investigators' clinical practices. All available family members were assessed for seizures using a validated seizure questionnaire. Electroclinical data were obtained on each proband and all affected family members; pedigrees were constructed. Families were analyzed for phenotypic patterns. Key Findings: Eighteen individuals with EMA were recruited. A history of seizures was found in 34 relatives in 15 (83%) of 18 families. In terms of epilepsy syndromes, 9 relatives from 7 of 15 families had febrile seizures. Two relatives had EMA. Classical genetic generalized epilepsy (GGE) syndromes were seen in five relatives: two generalized tonic-clonic seizures alone, two childhood absence epilepsy (CAE), and one juvenile myoclonic epilepsy (JME). Genetic epilepsy with febrile seizures plus (GEFS+) phenotypes occurred in 16 relatives. On review of the epilepsy syndromes within each family, seven families had a pattern consistent with GEFS+, whereas three families had classical GGE. Significance: The clinical genetics of EMA is suggestive of complex inheritance with shared genetic determinants overlapping with both classical GGE and GEFS+. The epilepsy syndromes in relatives of probands with EMA differ from those found in families of probands with CAE, supporting the concept that patients with EMA have a syndrome that is distinct from CAE. This presumably reflects different genetic components contributing to their genetic architecture.

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“…A genetic contribution to the syndrome is likely, as suggested by reports of identical twins affected ( Parker et al., 1996; Striano et al., 2002; Adachi et al., 2005 ) . However, further accurate studies are needed for a better knowledge of the precise genetic influence in EMA.…”

Section: A Definite Epilepsy Syndrome? Pros and Consmentioning

confidence: 94%

Eyelid myoclonia with absences (Jeavons syndrome): A well‐defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions?

et al. 2009

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Summary 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. Although first described in 1977 and widely reported by several authors within the last few years, EMA has not been yet recognized as a definite epileptic syndrome. However, when strict criteria are applied to the diagnosis, EMA appears to be a distinctive condition that could be considered a myoclonic epileptic syndrome, with myoclonia limited to the eyelids, rather than an epileptic syndrome with absences.

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Eyelid myoclonia with absences in monozygotic twins

Cited by 24 publications

References 8 publications

Eyelid myoclonia seizures in adults: An alternate look at the syndrome paradox

Eyelid myoclonia seizures in adults: An alternate look at the syndrome paradox

Family studies of individuals with eyelid myoclonia with absences

Eyelid myoclonia with absences (Jeavons syndrome): A well‐defined idiopathic generalized epilepsy syndrome or a spectrum of photosensitive conditions?

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