Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

Mastrangelo, Vincenzo; Minardi, Raffaella; Baroni, Maria Chiara; Severi, Giulia; Ambrosini, Enrico; Toni, Francesco; Alvisi, Lorenzo; Bisulli, Francesca; Bisulli, Francesca; Tinuper, Paolo; Mostacci, Barbara

doi:10.1016/j.seizure.2020.10.016

Cited by 8 publications

(4 citation statements)

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“…We also note that Sotos syndrome is a genetically heterogeneous condition, and epilepsy phenotypes may be at least partially dependent on the underlying gene responsible. For example, Mastrangelo et al recently reported a patient with Sotos syndrome due to compound heterozygous APC2 pathogenic variants, who had epilepsy with eyelid myoclonia; this epilepsy phenotype was not seen in any of our cohort 13 . Biallelic APC2 pathogenic variants may also result in a non‐Sotos phenotype involving lissencephaly and subcortical heterotopia; these patients tended to have generalized tonic‐clonic or myoclonic seizures 14 …”

Section: Discussionmentioning

confidence: 69%

“…For example, Mastrangelo et al recently reported a patient with Sotos syndrome due to compound heterozygous APC2 pathogenic variants, who had epilepsy with eyelid myoclonia; this epilepsy phenotype was not seen in any of our cohort. 13 Biallelic APC2 pathogenic variants may also result in a non-Sotos phenotype involving lissencephaly and subcortical heterotopia; these patients tended to have generalized tonic-clonic or myoclonic seizures. 14 Based on our results, clinicians and families can be reassured that when patients with Sotos syndrome develop seizures, the course is usually uncomplicated, and seizures are often self-limited.…”

Section: Discussionmentioning

confidence: 99%

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Seizures in Sotos syndrome: Phenotyping in 49 patients

et al. 2021

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Seizures in Sotos syndrome: Phenotyping in 49 patients

et al. 2021

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“…10,11 There has been an increased understanding of the role of genetics in EEM, with cases of EEM related to mutations in RORB, SYNGAP1, KCNB1, NAA10, COL6A3, KIAA2022, CHD2, NIPA1, APC2, and SLC2A1. 2,[12][13][14][15][16][17][18][19][20][21][22] There has also been the recognition that patients with EEM and underlying genetic mutations may also have an intellectual disability. There was no consensus about performing genetic testing in every patient with EEM among the panelists.…”

Section: Discussionmentioning

confidence: 99%

Clinical presentation and evaluation of epilepsy with eyelid myoclonia: Results of an international expert consensus panel

Smith,

Wirrell,

Andrade

et al. 2023

Epilepsia

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ObjectiveThe objective of this study was to determine areas of consensus among an international panel of experts for the clinical presentation and diagnosis of epilepsy with eyelid myoclonia (EEM; formerly known as Jeavons syndrome) to improve a timely diagnosis.MethodsAn international steering committee was convened of physicians and patients/caregivers with expertise in EEM. This committee summarized the current literature and identified an international panel of experts (comprising 25 physicians and five patients/caregivers). This international expert panel participated in a modified Delphi process, including three rounds of surveys to determine areas of consensus for the diagnosis of EEM.ResultsThere was a strong consensus that EEM is a female predominant generalized epilepsy syndrome with onset between 3 and 12 years of age and that eyelid myoclonia must be present to make the diagnosis. There was a strong consensus that eyelid myoclonia may go unrecognized for years prior to an epilepsy diagnosis. There was consensus that generalized tonic–clonic and absence seizures are typically or occasionally seen in patients. There was a consensus that atonic or focal seizures should lead to the consideration of reclassification or alternate diagnoses. There was a strong consensus that electroencephalography is required, whereas magnetic resonance imaging is not required for diagnosis. There was a strong consensus to perform genetic testing (either epilepsy gene panel or whole exome sequencing) when one or a combination of factors was present: family history of epilepsy, intellectual disability, or drug‐resistant epilepsy.SignificanceThis international expert panel identified multiple areas of consensus regarding the presentation and evaluation of EEM. These areas of consensus may be used to inform clinical practice to shorten the time to the appropriate diagnosis.

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“…Half of the patients with Soto's syndrome who had febrile seizures developed epilepsy later. [ 4 5 ] Clinicians need to suspect Soto's syndrome in children with developmental delay and epilepsy, even without the characteristic facial appearance and overgrowth features. In such cases, often advanced bone age can be used as a surrogate marker for aiding in early diagnosis.…”

mentioning

confidence: 99%