Results 101 to 110 of about 1,556 (197)
Clinical and Molecular Study of NPC in Iran: Report of 5 Novel Mutations [PDF]
, 2015 How to Cite This Article: Tonekaboni SH, Aryani O, Karimzadeh P, Zaman T, Ashrafi M, Salehpour Sh, Dehghan Manshadi M, Khalili E, Houshmand M. Clinical and Molecular Study of NPC in Iran: Report of 5 Novel Mutations. Ir an J Child Neurol. 2015 Autumn;9:4(
ARYANI, Omid +8 more
core +2 more sources
Embracing the future: Neonatal screening for epileptic syndromes
Epilepsia, Volume 66, Issue 6, Page 1843-1853, June 2025.
Rima Nabbout, Mathieu Kuchenbuch
wiley +1 more source
Hypothalamic hamartoma in adults
Chinese Journal of Contemporary Neurology and Neurosurgery, 2010 Objective To study the clinical features of hypothalamic hamartoma (HH) in adults. Methods A retrospective review of 27 cases of hypothalamic hamartoma in adults was performed, which account for 12.62% in all 214 hypothalamic hamartoma patients diagnosed
Chun⁃de LI +4 more
doaj
Neurología, 2012 Resumen: Objetivos: Describir las características epidemiológicas, clínico-electroencefalográficas y la morbilidad asociada de los pacientes con hamartoma hipotalámico, así como la evolución y el tratamiento seguido. Pacientes y métodos: Se han revisado
C. Castaño De La Mota +5 more
doaj +1 more source
NeuroImage: ClinicalBackground and objectives: Gelastic seizures due to hypothalamic hamartomas (HH) are challenging to treat, in part due to an incomplete understanding of seizure propagation pathways.
Karim Mithani +19 more
doaj +1 more source
Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician [PDF]
, 2015 Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues.
Hanna Alobaidy
core +3 more sources
Frontal lobe epilepsy with gelastic seizures
Archives of disease in childhood, 2021 Gelastic epilepsy are an uncommon seizure type most often symptomatic associated with hypothalamic harmatomas, with a prevalence rate of about 0, 5 per 100 000. However, idiopathic and cryptogenic cases with no evidence of cortical structural lesions have also been described. The term gelastic comes from Greek word gelos meaning laughter.
openaire +2 more sources
Hypothalamic Hamartoma–Associated Central Precocious Puberty in a Young Boy: A Case Study
Annals of Internal Medicine: Clinical CasesHypothalamic hamartoma is a congenital malformation diagnosed via magnetic resonance imaging and histology, and it often is linked to central precocious puberty (CPP), gelastic seizures, and intellectual disabilities.
Arooba Idris +7 more
doaj +1 more source
Hypothalamic hamartomas in adulthood: Clinical spectrum and treatment outcome—A unicenter experience
Brain and Behavior, 2019 Introduction Clinical manifestations of the hypothalamic hamartoma‐epilepsy syndrome (HH‐ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse. Methods Retrospective study of adult patients diagnosed with a HH in magnetic
Estefanía Conde Blanco +7 more
doaj +1 more source
GELASTIC SEIZURES IN TUBEROUS SCLEROSIS
Русский журнал детской неврологии, 2015 The authors consider the historical description, nosological entity, clinical and electroencephalographic manifestations of gelastic seizures, a rare type of epileptic seizures manifesting as sudden attacks of spasmodic laughter. They describe their case of gelastic seizures in a child with tuberous sclerosis.
M. B. Mironov +5 more
openaire +1 more source