Diaper changing‐induced reflex seizures in CDKL5‐related epilepsy

Solazzi, Roberta; Fiorini, Elena; Parrini, Elena; Darra, Francesca; Bernardina, Bernardo Dalla; Cantalupo, Gaetano

doi:10.1684/epd.2018.0999

Cited by 8 publications

(5 citation statements)

References 16 publications

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“…The second point of interest is the occurrence of reflex epileptic seizures, also not previously reported in PURA syndrome: the child initially experienced a series of spasms during specific actions (hand washing and tooth brushing). Stimulus-induced epileptic spasms are a rare type of reflex seizures, already described in genetic conditions, including chromosomal abnormalities, Rett syndrome and CDKL5related encephalopathy [6][7][8]; among the different stimuli that can provoke epileptic spasms, eating is the most frequently described. In our case, triggers consisted of hand washing and tooth brushing, both suggesting a specific sensitivity to somatosensory stimuli, especially prolonged stimuli, as occurs in rub epilepsy [9].…”

Section: Discussionmentioning

confidence: 99%

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Solazzi¹,

Fiorini²,

Parrini³

et al. 2021

Epileptic Disorders

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PURA syndrome is a distinct form of developmental encephalopathy, characterized by early-onset hypotonia, severe developmental delay, intellectual disability, epilepsy and respiratory and gastrointestinal disorders. We report a child with PURA syndrome, harbouring a previously described mutation, whose phenotype included two peculiar aspects: (1) hypokinetic-rigid syndrome, which was part of the clinical presentation from an early stage of the disease, and (2) reflex seizures, consisting of a series of spasms. We provide detailed clinical description and video recordings demonstrating both these aspects that are newly described in PURA syndrome. The early clinical features described here may therefore be included in the complex phenotype associated with PURA gene mutations and may help in the early diagnosis of patients. Furthermore, PURA syndrome should be considered in the differential diagnosis of early-onset bradykinetic rigid syndromes.

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Section: Discussionmentioning

confidence: 99%

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Solazzi¹,

Fiorini²,

Parrini³

et al. 2021

Epileptic Disorders

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“…The four patients reported in this paper all presented with severe neurodevelopmental disorders and seizures with their features are summarized in (Table 1). An in-depth clinical description of patient 1 reflects her unusual presentation with reflex seizures, which to our knowledge has only been reported once with MECP2-related disease and never with CAEE and twice with CDD including patient 1 [22][23][24].…”

Section: Illustrative Case Summaries I Clinical Featuresmentioning

confidence: 87%

A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett

Mhanni¹,

Greenberg²,

Hartley³

et al. 2020

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CDKL5 Deficiency Disorder (CDD) or CDKL5-associated epileptic encephalopathy (CAEE) is a distinct X-linked dominant epileptic encephalopathy that shares many features with Rett syndrome. In the past decade, mutations in CDKL5 gene were identified as part of the molecular heterogeneity of MECP2- negative Rett syndrome. CDD has increasingly gained recognition as a distinct molecular and clinical phenotype. Here we present four new patients with CDD: one with a clinical presentation of reflex seizures previously reported as a case report by the same group, and three cases with novel disease-causing mutations. The emerging distinct phenotype of CDD should allow the clinician to suspect the diagnosis early and avoid a lengthy diagnostic odyssey.

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“…and Solazzi et al 70,71 ; the latter described reflex seizures induced by diaper changing in a patient harboring a c.580_581del variant.…”

Section: Seizuresmentioning

confidence: 95%

“…Reflex seizures, as one of the presenting features in a case of CDKL5 -related epilepsy, has been reported in only two cases by Saitsu et al (a microdeletion spanning of 137 Kb) and Solazzi et al 70 71 ; the latter described reflex seizures induced by diaper changing in a patient harboring a c.580_581del variant.…”

Section: Clinical Presentationsmentioning

confidence: 99%

CDKL5 Gene: Beyond Rett Syndrome

Ciccia

Scalia

Venti

et al. 2021

Journal of Pediatric Neurology

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CDKL5 is a gene located in the X-chromosome (Xp22) encoding a serine/threonine kinase involved in various signaling pathways, implicated in cell proliferation, axon development, dendrite growth, synapse formation, and maintenance. Mutations occurring in this gene have been associated with drug-resistant early-onset epilepsy, with multiple seizures type, and deep cognitive and motor development delay with poor or absent speech, ataxic gait or inability to walk, hand stereotypies and in a few cases decrement of head growth. Many aspects remain unclear about the CDKL5 deficiency disorders, research will be fundamental to better understand the pathogenesis of neurological damage and consequently developed more targeted and profitable therapies, as there is not, at the present, a gene-based treatment and the seizures are in most of the cases drug resistant. In this article, we summarize the actual knowledge about CDKL5 gene function and mostly the consequence given by its dysfunction, also examining the possible therapeutic approaches.

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Diaper changing‐induced reflex seizures in CDKL5‐related epilepsy

Cited by 8 publications

References 16 publications

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

Early‐onset bradykinetic rigid syndrome and reflex seizures in a child with PURA syndrome

A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett

CDKL5 Gene: Beyond Rett Syndrome

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