Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome

2016 ◽  
Vol 38 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Nobutsune Ishikawa ◽  
Yoshiyuki Kobayashi ◽  
Yuji Fujii ◽  
Toshiyuki Yamamoto ◽  
Masao Kobayashi
Keyword(s):  
Late Onset ◽  
Deletion Syndrome ◽  
Epileptic Spasms ◽  
22Q13.3 Deletion Syndrome

scholarly journals DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
L. C. Schenkel ◽  
E. Aref-Eshghi ◽  
K. Rooney ◽  
J. Kerkhof ◽  
M. A. Levy ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Critical Region ◽  
Deletion Syndrome ◽  
Genetic Defects ◽  
Chromosome 22 ◽  
Incomplete Penetrance ◽  
Variable Size ◽  
Variable Expressivity ◽  
Genome Wide ◽  
22Q13.3 Deletion Syndrome

Abstract Background Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals. Results In this study we assessed genome-wide DNA methylation profiles in a cohort of 22 individuals with Phelan-McDermid syndrome, including 11 individuals with large (2 to 5.8 Mb) 22q13.3 deletions, 10 with small deletions (< 1 Mb) or intragenic variants in SHANK3 and one mosaic case. We describe a novel genome-wide DNA methylation epi-signature in a subset of individuals with Phelan-McDermid syndrome. Conclusion We identified the critical region including the BRD1 gene as responsible for the Phelan-McDermid syndrome epi-signature. Metabolomic profiles of individuals with the DNA methylation epi-signature showed significantly different metabolomic profiles indicating evidence of two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Are Epileptic Spasms a Seizure Type for the Insular Region?

2020 ◽  
Vol 51 (04) ◽  
pp. 295-297 ◽  
Author(s):  
Volodymyr Kharytonov ◽  
Olivier Dulac
Keyword(s):  
Slow Wave ◽  
Late Onset ◽  
Motor Program ◽  
High Amplitude ◽  
The Other ◽  
Seizure Type ◽  
Wave Characteristic ◽  
The Third ◽  
Epileptic Spasms ◽  
Insular Region

AbstractTwo patients with insular and striatal postnatal scar had epileptic spasms (ES) that were asymmetrical and the only seizure type, whereas none of the usual ictal symptoms of insular seizures occurred. Ictal electroencephalography (EEG) showed the high-amplitude slow-wave characteristic of ES. Vigabatrin remained efficient for over 4 years for one patient and right into the third decade for the other one. Such ES are distinct from infantile and late onset spasms. Furthermore, these observations suggest that in ES insular epilepsy triggers paroxysmal activation of the striatum, and that vigabatrin inhibits the striatal startle motor program, thus interrupting the corticostriatal loop.

Eating Epilepsy: Pathophysiologic Models, Electroclinical Phenotypes, and Outcome

2019 ◽  
Vol 08 (04) ◽  
pp. 094-099
Author(s):  
Alessandro Iodice
Keyword(s):  
Late Onset ◽  
Age At Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Reflex Epilepsy ◽  
Resonance Imaging ◽  
Rare Form ◽  
Epileptic Spasms ◽  
Generalized Seizures ◽  
Impaired Awareness ◽  
Interictal Discharges

AbstractEating epilepsy (EE) is a rare form of reflex epilepsy precipitated by food. Ictal semiology may vary depending on the etiology, age at onset, and cerebral areas involved in the epileptogenic network. In childhood, EE could manifest as tonic head drop seizures, generalized seizures, or late-onset epileptic spasms. However, in teenagers or adults, seizures are often preceded by aura and commonly manifest as focal seizures with or without impaired awareness. Brain magnetic resonance imaging abnormalities are seen in less than half of the reported cases. Posterior or multifocal interictal discharges can be seen in patients with EE. No randomized data about treatment are available. Structural epilepsies or coexistent unprovoked seizures other than eating seizures are poor prognostic factors for pharmacological outcome.

Atypical presentation in Rasmussen encephalitis: delayed late-onset periodic epileptic spasms

2011 ◽  
Vol 13 (3) ◽  
pp. 321-325 ◽  
Author(s):  
Taíssa P.F. Ferrari ◽  
Ana P.A. Hamad ◽  
Luís Otávio S.F. Caboclo ◽  
Ricardo S. Centeno ◽  
Ana Luiza Zaninotto ◽  
...  
Keyword(s):  
Late Onset ◽  
Atypical Presentation ◽  
Rasmussen Encephalitis ◽  
Epileptic Spasms

scholarly journals Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

2001 ◽  
Vol 69 (2) ◽  
pp. 261-268 ◽  
Author(s):  
Maria Clara Bonaglia ◽  
Roberto Giorda ◽  
Renato Borgatti ◽  
Giorgio Felisari ◽  
Chiara Gagliardi ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
22Q13.3 Deletion Syndrome

scholarly journals Cryptogenic Late-onset Epileptic Spasms: An Overlooked Syndrome of Early Childhood?

Epilepsia ◽  
2006 ◽  
Vol 47 (6) ◽  
pp. 1035-1042 ◽  
Author(s):  
Monika M. Eisermann ◽  
Dorothee Ville ◽  
Christine Soufflet ◽  
Perrine Plouin ◽  
Catherine Chiron ◽  
...  
Keyword(s):  
Early Childhood ◽  
Late Onset ◽  
Epileptic Spasms

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

PEDIATRICS ◽  
2008 ◽  
Vol 122 (2) ◽  
pp. e376-e382 ◽  
Author(s):  
A. Philippe ◽  
N. Boddaert ◽  
L. Vaivre-Douret ◽  
L. Robel ◽  
L. Danon-Boileau ◽  
...  
Keyword(s):  
Brain Imaging ◽  
Imaging Study ◽  
Deletion Syndrome ◽  
Brain Imaging Study ◽  
Neurobehavioral Profile ◽  
22Q13.3 Deletion Syndrome

scholarly journals Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

OBM Genetics ◽  
2018 ◽  
Vol 2 (4) ◽  
pp. 1-1
Author(s):  
Renée J. Zwanenburg ◽  
◽  
Trijnie Dijkhuizen ◽  
Martijn J. de Groot ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Case Series ◽  
Recurrence Risk ◽  
Deletion Syndrome ◽  
22Q13.3 Deletion Syndrome
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