The Becoming of Children With Doose Syndrome

2019 ◽  
Author(s):  
Keyword(s):  
Doose Syndrome

scholarly journals Genotype-Phenotype correlation in Dravet Syndrome with SCN1A mutation increase efficiency of molecular diagnosis

2012 ◽  
Vol 18 (2) ◽  
pp. 60-62
Author(s):  
MC Gonsales ◽  
P Preto ◽  
MA Montenegro ◽  
MM Guerreiro ◽  
I Lopes-Cendes
Keyword(s):  
Protein Function ◽  
Copy Number ◽  
Mutation Screening ◽  
Copy Number Variants ◽  
Febrile Seizures ◽  
Copy Number Variations ◽  
Dravet Syndrome ◽  
Missense Mutations ◽  
The Impact ◽  
Doose Syndrome

OBJECTIVES: The purpose of this study was to advance the knowledge on the clinical use of SCN1A testing for severe epilepsies within the spectrum of generalized epilepsy with febrile seizures plus by performing genetic screening in patients with Dravet and Doose syndromes and establishing genotype-phenotype correlations. METHODS: Mutation screening in SCN1A was performed in 15 patients with Dravet syndrome and 13 with Doose syndrome. Eight prediction algorithms were used to analyze the impact of the mutations in putative protein function. Furthermore, all SCN1A mutations previously published were compiled and analyzed. In addition, Multiplex Ligation-Dependent Probe Amplification (MLPA) technique was used to detect possible copy number variations within SCN1A. RESULTS: Twelve mutations were identified in patients with Dravet syndrome, while patients with Doose syndrome showed no mutations. Our results show that the most common type of mutation found is missense, and that they are mostly located in the pore region and the N- and C-terminal of the protein. No copy number variants in SCN1A were identified in our cohort. CONCLUSIONS: SCN1A testing is clinically useful for patients with Dravet syndrome, but not for those with Doose syndrome, since both syndromes do not seem to share the same genetic basis. Our results indicate that indeed missense mutations can cause severe phenotypes depending on its location and the type of amino-acid substitution. Moreover, our strategy for predicting deleterious effect of mutations using multiple computation algorithms was efficient for most of the mutations identified.

EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome)

Neurology ◽  
2014 ◽  
Vol 82 (17) ◽  
pp. 1508-1513 ◽  
Author(s):  
F. Moeller ◽  
K. Groening ◽  
J. Moehring ◽  
H. Muhle ◽  
S. Wolff ◽  
...  
Keyword(s):  
Doose Syndrome

scholarly journals Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome

Seizure ◽  
2021 ◽  
Vol 85 ◽  
pp. 12-18
Author(s):  
Charuta Joshi ◽  
Katherine Nickels ◽  
Scott Demarest ◽  
Christin Eltze ◽  
J. Helen Cross ◽  
...  
Keyword(s):  
Delphi Consensus ◽  
Doose Syndrome ◽  
Atonic Seizures

A Video-EEG Study of Astatic Seizures Observed in Patients with Myoclonic Astatic Epilepsy of Early Childhood (Doose Syndrome)

1991 ◽  
Vol 45 (2) ◽  
pp. 380-382
Author(s):  
Hirokazu Oguni ◽  
Yuichi Imaizumi ◽  
Takashi Uehara ◽  
Yukio Fukuyama
Keyword(s):  
Early Childhood ◽  
Doose Syndrome ◽  
Video Eeg

Successful corpus callosotomy for Doose syndrome

2017 ◽  
Vol 39 (10) ◽  
pp. 882-885 ◽  
Author(s):  
Sotaro Kanai ◽  
Tohru Okanishi ◽  
Mitsuyo Nishimura ◽  
Kentaro Iijima ◽  
Takuya Yokota ◽  
...  
Keyword(s):  
Corpus Callosotomy ◽  
Doose Syndrome

Video-EEG Analysis of Drop Seizures in Myoclonic Astatic Epilepsy of Early Childhood (Doose Syndrome)

Epilepsia ◽  
1992 ◽  
Vol 33 (5) ◽  
pp. 805-813 ◽  
Author(s):  
Hirokazu Oguni ◽  
Yukio Fukuyama ◽  
Yuichi Imaizumi ◽  
Takashi Uehara
Keyword(s):  
Early Childhood ◽  
Eeg Analysis ◽  
Doose Syndrome ◽  
Video Eeg

Ictal vocalizations are relatively common in myoclonic-atonic seizures associated with Doose syndrome: an audio-video-polygraphic analysis

2021 ◽  
Vol 23 (5) ◽  
pp. 706-712
Author(s):  
Hirokazu Oguni ◽  
Yoshiko Hirano ◽  
Susumu Ito ◽  
Aiko Nishikawa ◽  
Yui Otani ◽  
...  
Keyword(s):  
Audio Video ◽  
Doose Syndrome ◽  
Atonic Seizures

scholarly journals Report from a Survey of Parents Regarding the Use of Cannabidiol (Medicinal cannabis) in Mexican Children with Refractory Epilepsy

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Carlos G. Aguirre-Velázquez
Keyword(s):  
Adverse Effects ◽  
Antiepileptic Drugs ◽  
Latin American ◽  
Refractory Epilepsy ◽  
Online Surveys ◽  
Mexican Children ◽  
Ohtahara Syndrome ◽  
Medicinal Cannabis ◽  
Latin American Countries ◽  
Doose Syndrome

Structured online surveys were used to explore the experiences of the parents of children with refractory epilepsy using medicinal cannabis in Mexico during September 2016. The surveys, which were completed in full, were reviewed, and 53 cases of children aged between 9 months and 18 years were identified. Of these, 43 cases (82%) were from Mexico and 10 (18%) were from Latin American countries. Of the 43 Mexican cases, the diagnoses were as follows: 20 cases (47%) had Lennox-Gastaut syndrome (LGS); 13 cases (30%) had unspecified refractory epilepsy (URE); 8 cases (19%) had West syndrome (WS); 1 case (2%) had Doose syndrome (DS); and 1 case (2%) had Ohtahara syndrome (OS). In total, 47.1% of cases had previously been treated with 9 or more anticonvulsant therapies. The parents reported a decrease in convulsions when cannabidiol was used in 81.3% of the cases; a moderate to significant decrease occurred in 51% of cases, and 16% of cases were free from seizure. The number of antiepileptic drugs being used was reduced in 9/43 (20.9%) cases. No serious adverse effects were reported, with only some mild adverse effects, such as increased appetite or changes in sleep patterns, reported in 42% of cases.

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