Results 261 to 270 of about 2,080,423 (380)

Lacosamide as an Adjunctive Therapy in Drug-Resistant Absence Epilepsy: Successful Treatment of Four Patients. [PDF]

Iran J Child Neurol
Moosavian T, Moosavian H.
europepmc   +1 more source

Evolving Tale of Childhood Absence Epilepsy: Finally Better News? [PDF]

, 2016
Ajay Gupta
openalex   +1 more source

Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

JAMA Neurology, 2016
Jing-Qiong Kang, R. Macdonald
semanticscholar   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Long-term Prognosis of Childhood Absence Epilepsy. [PDF]

Noro Psikiyatr Ars
Yaşgüçlükal MA, Özçelik EU, Deniz Elmali A, Çokar Ö, Demirbilek V.   +4 more
europepmc   +1 more source

EFFECT OF PROGRESSIVE ABSENCE EPILEPSY AND ITS TREATMENT ON HEMODYNAMICS AND AUTONOMIC REGULATION OF THE HEART RHYTHM

, 2019
М.Л. Мамалыга, L.M. Mamalyga
openalex   +1 more source

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies [PDF]

, 2018
Thio, Liu Lin, Weisenberg, Judith
core   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

Annals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar1, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +7 more
wiley   +1 more source

CHILDHOOD ABSENCE EPILEPSY: SPECIFIC FEATURES OF THE DISEASE COURSE AND OUTCOMES

, 2017
I. O. Schederkina, A. A. Shadrova, Н. Н. Заваденко, И. Е. Колтунов   +3 more
openalex   +2 more sources

The Genetic Absence Epilepsy Rats from Strasbourg model of absence epilepsy exhibits alterations in fear conditioning and latent inhibition consistent with psychiatric comorbidities in humans

European Journal of Neuroscience, 2016
W. Marks, M. Cavanagh, Quentin Greba, S. Cain, T. Snutch, J. Howland   +5 more
semanticscholar   +1 more source