Results 141 to 150 of about 156,479 (260)

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Midbrain Ataxia

American Journal of Roentgenology, 2005
Aziz, T, Jenkinson, N, Stein, J
openaire   +1 more source

A guide to neuromodulation in drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Abstract Neuromodulation is approved for the treatment of drug‐resistant epilepsy. It has been increasingly utilized over the past two decades with the approval of deep brain stimulation (DBS) and responsive neurostimulation (RNS) in addition to vagus nerve stimulation (VNS)—particularly in patients who are not deemed to be good resective surgical ...
Prachi Parikh, Irena Dolezawa, Manu Hegde, Lukas Imbach, Brian N. Lundstrom, Francesca Pizzo, Vikram R. Rao, Jaysingh Singh, Derek Southwell, Satsuke Watanabe, Birgit Frauscher   +10 more
wiley   +1 more source

A Case of Voltage-Gated Calcium Channel and TG6 Antibody-Positive Cerebellar Ataxia. [PDF]

Case Rep Neurol Med
Cifelli A, Butt Z, Cifelli E, Hadjivassiliou M.   +3 more
europepmc   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

Epileptic Disorders, EarlyView.
Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

Spinocerebellar Ataxia Type 23 (SCA23): A Rare Cause of SCA in the Americas. [PDF]

Cerebellum
Saadeh VMD, Nassif D, Vasconcellos LF.
europepmc   +1 more source

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

Epileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori, Hiroshi Terashima, Yu kakimoto, Mitsuhiro Kato, Shumpei Uchino   +4 more
wiley   +1 more source

Validation and Distribution Characteristics of the Grading of Lateropulsion in Patients with Infratentorial Stroke: A Preliminary Study. [PDF]

Prog Rehabil Med
Igarashi T, Hirano S, Inoue T, Fukumoto S, Igawa M, Yoshida R, Nezu T, Shibata O, Hayashi S, Ueta K, Mitsutake T.   +10 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

SCA27B in Brazil: frequency, phenotype and genotype-phenotype correlations. [PDF]

J Neurol
de Jesus Araujo Dias A, Silveira C, Vinagre AM, Bonadia LC, Santos NBS, Rezende TJR, Corazza LA, Pedroso JL, Barsottini OGP, de Lima FD, França Junior MC.   +10 more
europepmc   +1 more source