Panayiotopoulos syndrome: Probable genetic origin, but not in SCN1A

Valle, Francesco; Negrillo, Antonio Díaz; Mateos, G. Ares; Santaeufemia, F.J. Sanz; Rabes, T. del Rosal; Sánchez-Puelles, F.J. González-Valcárcel

doi:10.1016/j.ejpn.2010.08.002

Cited by 12 publications

(11 citation statements)

References 8 publications

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“…In another study, 2 monozygotic twins presented with PS were found to have no mutations in the SCN1A gene or the GABRG2 gene (another gene associated with Dravet Syndrome). Based on the early onset of PS in these patients and the severity of their symptoms, the authors concluded that mutations in the SCN1A gene may regulate the severity of the syndrome rather than the genesis of the disorder (Martín Del Valle et al, 2011 ). In a very recent study, a 6-year old girl diagnosed with PS was presented with a de novo 2.6 Mb deletion in 22q11.2 and an additional 172 kb duplication in 2q37.1 (Bertini et al, 2017 ).…”

Section: Panayiotopoulos Syndromementioning

confidence: 99%

Sleep Related Epilepsy and Pharmacotherapy: An Insight

et al. 2018

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In the last several decades, sleep-related epilepsy has drawn considerable attention among epileptologists and neuroscientists in the interest of new paradigms of the disease etiology, pathogenesis and management. Sleep-related epilepsy is nocturnal seizures that manifest solely during the sleep state. Sleep comprises two distinct stages i.e., non-rapid eye movement (NREM) and rapid eye movement (REM) that alternate every 90 min with NREM preceding REM. Current findings indicate that the sleep-related epilepsy manifests predominantly during the synchronized stages of sleep; NREM over REM stage. Sleep related hypermotor epilepsy (SHE), benign partial epilepsy with centrotemporal spikes or benign rolandic epilepsy (BECTS), and Panayiotopoulos Syndrome (PS) are three of the most frequently implicated epilepsies occurring during the sleep state. Although some familial types are described, others are seemingly sporadic occurrences. In the present review, we aim to discuss the predominance of sleep-related epilepsy during NREM, established familial links to the pathogenesis of SHE, BECTS and PS, and highlight the present available pharmacotherapy options.

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Section: Panayiotopoulos Syndromementioning

confidence: 99%

Sleep Related Epilepsy and Pharmacotherapy: An Insight

et al. 2018

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“…They share a suspected genetic origin [1,2], the absence of another underlying disorder, rare seizures, limited psychosocial and cognitive impacts, and good medical prognosis with spontaneous remission by adolescence [3][4][5]. Antiepileptic drug (AED) treatment might not even be needed.…”

Section: Introductionmentioning

confidence: 99%

Disengagement and inhibition of visual–spatial attention are differently impaired in children with rolandic epilepsy and Panayiotopoulos syndrome

Bedoin

Ciumas

Lopez

et al. 2012

Epilepsy & Behavior

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“…62 Is thought that at least 2 to 3 in 1000 children may be affected, and whether cases that are nowadays considered to have atypical features are included, these numbers could be higher. 63,64 It's considered the most common specific cause of non-febrile, non-convulsive status epileptics in childhood. 65…”

Section: Epidemiologymentioning

confidence: 99%

“…[72][73][74] but like Martin del Valle et al suspect that this gene could be not the origin of PS but can be related with its severity. 64 It's necessary more research in this field (Figure 1). It is important to highlight that these different epileptic syndromes develop in childhood in a different way, and it is essential to determine early the appearance of the symptoms, the importance of a characteristic electroencephalographic tracing and the degree of clinical deterioration that the patient may have.…”

Section: Genetic Characteristicsmentioning

confidence: 99%

The relationship between the components of idiopathic focal epilepsy

Leguizamón¹

2018

JPNC

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The idiopathic focal epilepsies members Landau-Kleffner syndrome a. Historically:The original work made it for Landau and Kleffner and published in 1957 reports the cases of five children with epilepsy and acquired aphasia. The clinical findings of these patients were generalized, partial, myoclonic, or absence seizures, all developed aphasia for different periods of time. In the EEG was evident a paroxysmal disorder, usually bilateral, often more predominant in temporal localization with generalized spikes. 3 After that in 1992, Paquiet et al, publish the first review of the literature about it. 4 In 1999 Rossi et al. 5 and in 2003 Mukhinet al describe the EEG findings and progression in patients with LKS. 6 In 2001 Robinson et al, demonstrated that children with ESES have no presence of clinical alteration in language capacities in relation with LKS 7 and in 2004 McVicar and Shinnar confirmed that clinically the syndrome present a limitation in the language

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Panayiotopoulos syndrome: Probable genetic origin, but not in SCN1A

Cited by 12 publications

References 8 publications

Sleep Related Epilepsy and Pharmacotherapy: An Insight

Sleep Related Epilepsy and Pharmacotherapy: An Insight

Disengagement and inhibition of visual–spatial attention are differently impaired in children with rolandic epilepsy and Panayiotopoulos syndrome

The relationship between the components of idiopathic focal epilepsy

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