Results 31 to 40 of about 1,141,201 (199)

Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later.

, 2011
Dravet syndrome was described in 1978 by Dravet (1978) under the name of severe myoclonic epilepsy in infancy (SMEI). The characteristics of the syndrome were confirmed and further delineated by other authors over the years.
DALLA BERNARDINA, Bernardo, Guerrini R., Bureau M, Dravet C   +3 more
core   +1 more source

Early development in Dravet syndrome; visual function impairment precedes cognitive decline

, 2011
Aim of the study was to describe prospectively the early neuropsychological evolution including the first pre-cognitive stages of the Severe Myoclonic Epilepsy in Infancy (SMEI) or Dravet syndrome.
Veredice, Chiara, Baranello, Giovanni, Mercuri, Eugenio Maria, Guzzetta, Francesco, Chieffo, D, Lettori, Donatella, Dravet, Charlotte, Martinelli, Danilo, Battaglia, Domenica Immacolata   +8 more
core   +1 more source

Anesthetic considerations in Dravet syndrome

, 2022
We describe a two-year-old boy with Dravet syndrome, a severe genetic epilepsy, who developed a generalized tonic-clonic seizure immediately following an intravenous bolus of lidocaine given for propofol pain amelioration during induction of anesthesia ...
Macdonald-Laurs, E, Howell, KB, Corlette, S, Davidson, A   +3 more
core   +1 more source

Neuropsychological development in children with Dravet syndrome.

, 2011
Neuropsychlogical development in children with Dravet ...
Claudia Brogna, Donatella Lettori, Daniela Chieffo, Brogna, Claudia, Dravet, Charlotte, Chieffo, Daniela, Battaglia, Domenica Immacolata, Chieffo, Daniela Pia, Mercuri, Eugenio Maria, Domenica Battaglia, Maria Del Re, Francesco Guzzetta, Charlotte Dravet, Guzzetta, Francesco, Lettori, Donatella, Eugenio Mercuri, Del Re, Maria   +16 more
core   +1 more source

Clinical burden and treatment patterns associated with Dravet or Lennox-Gastaut syndromes: A retrospective study using natural language processing of narrative unstructured electronic health records

Heliyon
Introduction: This study aimed to investigate the clinical and humanistic burden in two developmental and epileptic encephalopathies, Dravet syndrome and Lennox-Gastaut syndrome, and describe challenges related to treatment with antiseizure medications ...
Mei Lu, Dave Iwanyckyj, Sally W. Wade, Pablo Racana, Fernando Otalora, Satish Rao   +5 more
doaj   +1 more source

Molecular aspects of Dravet syndrome patients in Taiwan

, 2014
Background: Dravet syndrome (DS) is a rare form of intractable epilepsy. Children with DS often start having seizures in infancy, and gradually develop other seizure types.
Lin, Wei-De;Chang, Kai-Ping;Wang, Chung-Hsing;Chen, Shyi-Jou;Fan, Pi-Chuan;Weng, Wen-Chin;Lin, Wei-Chiang;Tsai, Yushin;Tsai, Chang-Hai;Chou, I-Ching;Tsai, Fuu-Jen, 范碧娟 ;翁妏謹   +1 more
core   +1 more source

Proteomic and metabolomic signature of Dravet Syndrome [PDF]

, 2021
Dravet syndrome is a rare, severe form of pediatric epilepsy, accompanied by cognitive, behavioral and motor disturbances. Haploinsufficiency of the Scn1a gene, encoding the function of sodium channels on GABAergic neurons, has been detected in over 80 %
Miljanović, Nina
core   +4 more sources

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Frontiers in Neurology, 2021
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome.
Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov   +4 more
doaj   +1 more source

Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients

, 2011
To clarify the role of epilepsy and genetic background in determining the cognitive outcome of patients with Dravet ...
Bernardo Dalla Bernardina, De Giorgi I, Francesca Darra, VIGEVANO F., Elena Freri, Francesca Ragona, FRERI E., BATTAGLIA D., VEGGIOTTI P., DRAVET C., Vigevano F, Nicola Specchio, RAGONA F., Charlotte Dravet, Guzzetta, Francesco, MARINI C., Francesca Offredi, Darra F, Fontana E, BRAZZO D., FONTANA E., Chieffo D, Specchio N, CHIEFFO D., Simona Cappelletti, Francesco Guzzetta, Battaglia D, Morbi M, SPECCHIO N., Tiziana Granata, DARRA, Francesca, Ilaria De Giorgi, TORALDO A., Federico Vigevano, Veggiotti P, Pierangelo Veggiotti, Brazzo D, DE GIORGI I., Toraldo A, Daniela Brazzo, Guzzetta F, Alessio Toraldo, Freri E, GUZZETTA F., Elena Fontana, CAPPELLETTI S., Guerrini R, Dalla Bernardina B, GRANATA T., Cappelletti S, Daniela Chieffo, Monica Morbi, Renzo Guerrini, OFFREDI F., Battaglia, Domenica Immacolata, GUERRINI R., Domenica Battaglia, DALLA BERNARDINA, Bernardo, Marini C, Granata T, Offredi F, Chieffo, D, Carla Marini, MORBI M., Ragona F, Dravet C   +65 more
core   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source