22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature

Valvo, Giulia; Novara, Francesca; Brovedani, Paola; Ferrari, Anna Rita; Guerrini, Renzo; Zuffardi, Orsetta; Sicca, Federico

doi:10.1016/j.yebeh.2012.09.035

Cited by 18 publications

(15 citation statements)

References 32 publications

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“…EEG characterization allowed us to define the seizures as originating from the left temporal lobe in a picture of probably symptomatic epilepsy, despite MRI study failed to find specific alteration in the temporal lobes. This seizures pattern differs from that previously described (17) in a case of 22q11.2 microduplication in a young girl affected by epilepsy with continuous spike and waves during sleep. Moreover, no myoclonic jerks (16) has been reported in our patient.…”

Section: Discussioncontrasting

confidence: 92%

“…Bowel and bladder control is regular, except during the seizure episodes. However, no neurodevelopmental regression has been detected during the lifetime, differently from what previously reported in literature (17). From a relational and emotional point of view, the mother reported affection and sociability since the first childhood.…”

Section: Case Presentationcontrasting

confidence: 82%

“…Furthermore, epilepsy is reported being one possible comorbidity in CES (3) as well as in other chromosome 22q11 aberrations. Literature reports few CES patients with different kinds of seizures in their history (6)(7)(8) and more cases of epilepsy in chromosome 22q11 anomalies (9)(10)(11)(12)(13)(14)(15)(16)(17)(18). In the present paper, we report on a young adult with tetrasomy of the region 22q11.1q11.21 associated with drug resistant epilepsy, severe intellectual disability and cranial and facial dysmorphic features.…”

Section: Introductionmentioning

confidence: 70%

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Drug resistant epilepsy in a young male with Cat Eye Syndrome: a case study

Verri¹

2017

CCRE

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The Cat Eye Syndrome (CES) is a rare syndrome associated with gains of the pericentromeric region of chromosome 22. It is usually characterized by multiorgan and physical malformation, skeletal problems, short stature, anal atresia and moderate to severe intellectual disability. We present a case study of a 31-year-old-male affected by tetrasomy in the q11.1q11.21 region of the chromosome 22. We also carried out clinical, neurophysiological and neuroradiological evaluations, and psychometric assessment. Moreover, the patient underwent Array-CGH, conventional cytogenetic and FISH analysis. Clinically, we observed a pulmonary venous malformation which had been surgically treated, and several physical malformations. From a neurological point of view, we observed the following characterizing elements: intellectual disability, adaptive impairment and focal epilepsy. Seizures were characterized by loss of contact, staring, face pallor, motor stereotypies such as nose scratching, bimanual automatisms, chewing and severe asthenia. As the child grew seizures became more and more frequent (up to one/two episodes a day) and were drug resistant. Prolonged EEG recordings captured focal seizures originating on the left temporal leads. Magnetic resonance imaging (MRI) documented thinning of the corpus callosum, hypomyelination of the semi-oval centers, extensive and multifocal subcortical malacic areas and gliosis in the brain. Although seizure characterization is lacking in CES, in the present case, paralleling anatomic defects and intellectual disability, epilepsy emerged as a main disturbance in the clinical picture of CES.

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Section: Discussioncontrasting

confidence: 92%

Section: Case Presentationcontrasting

confidence: 82%

Section: Introductionmentioning

confidence: 70%

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Drug resistant epilepsy in a young male with Cat Eye Syndrome: a case study

Verri¹

2017

CCRE

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“…Similarly, ASD occurs in carriers of 1q21.1 (del: <10%%, dup: 41%) (Haldeman‐Englert and Jewett, ; Bernier et al, ), 16p11.2 (del: 24–33%, dup: 15–22%) (Hanson et al, ; Green Snyder et al, ; Bernier et al, ) and 22q11.2 (del: 20%, dup: 14–25%) CNVs (Fine et al, ; McDonald‐McGinn et al, ; Wenger et al, ). Other clinically similar phenotypes that are observed in carriers are seizures in 16p11.2 (del: 24–40%, dup: 30%) (Shinawi et al, ; Zufferey et al, ; Steinman et al, ) and 22q11.2 CNVs (del: 23%, dup: ∼16–40%) (Kao et al, ; Valvo et al, ) or ADHD in 1q21.1 (del: 10–25%, dup: 29%) (Haldeman‐Englert and Jewett, ; Bernier et al, ) and 7q11.23 CNVs (del: 65%, dup: 25%) (Leyfer et al, ; Mervis et al, ).…”

Section: Gene Expression Modelsmentioning

confidence: 86%

Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders

Deshpande

Weiss

2018

Developmental Neurobiology

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Deletions and duplications, called reciprocal CNVs when they occur at the same locus, are implicated in neurodevelopmental phenotypes ranging from morphological to behavioral. In this article, we propose three models of how differences in gene expression in deletion and duplication genotypes may result in deleterious phenotypes. To explore these models, we use examples of the similarities and differences in clinical phenotypes of five reciprocal CNVs known to cause neurodevelopmental disorders: 1q21.1, 7q11.23, 15q13.3, 16p11.2, and 22q11.2. These models and examples may inform some insights into better understanding of gene-phenotype relationships. © 2018 Wiley Periodicals, Inc. Develop Neurobiol 78: 519-530, 2018.

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“…Baralle et al [25] reported on a mother and her son who both had a 22q11.2 microdeletion; the mother presented with a tremor-like myoclonic movement disorder affecting the head, trunk, and limbs since infancy. Furthermore, there were single reports of patients carrying the deletion or the duplication and presenting with atypical absences [26] or generalized seizures [27][28][29]. Finally, Lemke et al [30] and Piccione et al [31] described two different patients with a diurnal pattern of myoclonias, generalized tonic-clonic seizures, and pathologic EEG with generalized spike waves (which are characteristic of JME) and respectively affected by 22q11.2 microdeletion and duplication.…”

Section: To the Editormentioning

confidence: 99%