Results 221 to 230 of about 4,320,858 (290)

Safety, tolerability, and effectiveness of oral zonisamide therapy in comparison with intramuscular adrenocorticotropic hormone therapy in infants with West syndrome.

European journal of paediatric neurology, 2019
West syndrome is a distinct, infantile onset, epileptic encephalopathy, associated with poor neurodevelopmental outcome. The present study was designed as a randomized, open-label, pilot study to evaluate the safety, feasibility, and effectiveness of ...
Dhanalakshmi Angappan, J. Sahu, P. Malhi, P. Singhi   +3 more
semanticscholar   +1 more source

Genotype-phenotype correlation on 45 individuals with West syndrome.

European journal of paediatric neurology, 2019
West syndrome is an epilepsy syndrome characterized by repetitive epileptic spasms (ES) and hypsarrhythmia, typically leading to developmental delay/intellectual disability (DD/ID). It is considered a classic epileptic encephalopathy (EE).
Ilona Krey, J. Krois-Neudenberger, J. Hentschel, S. Syrbe, T. Polster, B. Hanker, B. Fiedler, G. Kurlemann, J. Lemke   +8 more
semanticscholar   +1 more source

West's Syndrome

Journal of Child Neurology, 2002
West's syndrome (infantile spasms) can be considered the classic disorder of the catastrophic childhood epilepsies. Although West's syndrome was identified 160 years ago, it is still not fully understood today. Because of the multiple etiologies associated with West's syndrome, the evaluation and treatment of the disease are complex, and, to date ...
openaire   +2 more sources

Vigabatrin and high-dose prednisolone therapy for patients with West syndrome.

Epilepsy Research, 2018
OBJECTIVE Hormonal therapy and vigabatrin are now accepted as the first-line or standard therapies for West syndrome (WS). However, the superiority of these drugs in terms of monotherapy or combination therapy is still in question.
A. Ko, Song Ee Youn, H. Chung, S. H. Kim, Joon Soo Lee, H. Kim, Hoon-Chul Kang   +6 more
semanticscholar   +1 more source

Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.

Brain & development (Tokyo. 1979), 2018
BACKGROUND IARS2 encodes isoleucine-tRNA synthetase, which is aclass-1 amino acyl-tRNA synthetase. IARS2 mutations are reported to cause Leigh syndrome or cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal ...
Yusuke Takezawa, Hiromi Fujie, Atsuo Kikuchi, T. Niihori, R. Funayama, M. Shirota, Keiko Nakayama, Y. Aoki, M. Sasaki, S. Kure   +9 more
semanticscholar   +1 more source

Efficacy and safety of pyridoxal in West syndrome: A retrospective study.

Brain & development (Tokyo. 1979), 2019
OBJECTIVE To evaluate the efficacy and safety of pyridoxal for treating West syndrome. METHODS We retrospectively investigated pyridoxal's efficacy and safety in 117 patients with West syndrome at Saitama Children's Medical Center from July 1993 to May
Ryuki Matsuura, S. Hamano, Jun Kubota, A. Daida, S. Ikemoto, Y. Hirata, R. Koichihara   +6 more
semanticscholar   +1 more source

Leigh syndrome associated with West syndrome

Brain and Development, 2003
Leigh syndrome (LS) (sub-acute necrotizing encephalomyelopathy) is characterized by symmetric brain lesions occurring mainly in the basal ganglia and associated with variable clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties. Patients with LS may develop seizures.
Masahiro, Tsuji, Shigekazu, Kuroki, Haruko, Maeda, Mieko, Yoshioka, Toshiro, Maihara, Tatsuya, Fujii, Masatoshi, Ito   +6 more
openaire   +2 more sources

ORO-DENTAL MANIFESTATIONS IN WEST SYNDROME.

Current Topics in Medicinal Chemistry, 2019
BACKGROUND West Syndrome is a rare epileptic encephalopathy involving infantile spasms, altered electroencephalographic pattern with hypsarrhythmia, and psychomotor development delay.
F. della Vella, M. Contaldo, Renato Fucile, F. Panza, Vittorio Dibello, Z. Kalemaj, R. Ninivaggi, M. Petruzzi, R. Serpico   +8 more
semanticscholar   +1 more source

Familial Idiopathic West Syndrome

Journal of Child Neurology, 2000
Two families, each with occurrence of West syndrome in two siblings, are presented. Monozygotic twins in family 1 developed infantile spasms at the age of 4 months. Two female siblings in family 2 started to have seizures at the age of 6 months, but 2 years apart.
E, Reiter, M, Tiefenthaler, M, Freillinger, G, Bernert, R, Seidl, E, Hauser   +5 more
openaire   +2 more sources

A novel C‐terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation

International Journal of Developmental Neuroscience, 2018
West Syndrome is a severe epileptic encephalopathy characterized by epileptic spasms, hypsarrhythmia, and regression of psychomotor acquisitions beginning in the first year of life.
Marwa Ben Jdila, C. Triki, B. B. Rhouma, Rihab Ben Jomaa, A. Issa, L. Ammar-keskes, F. Kamoun, F. Fakhfakh   +7 more
semanticscholar   +1 more source