Results 61 to 70 of about 14,767 (235)

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Clinical considerations in the treatment of idiopathic hypersomnia.

Sleep Medicine
Idiopathic hypersomnia typically is a chronic and potentially debilitating neurologic sleep disorder, and is characterized by excessive daytime sleepiness.
M. Thorpy, L. Krahn, Chad Ruoff, N. Foldvary-Schaefer   +3 more
semanticscholar   +1 more source

Low carnitine palmitoyltransferase1 activity is a risk factor for narcolepsy type 1 and other hypersomnia.

Sleep, 2022
STUDY OBJECTIVES Narcolepsy type 1 (NT1) is associated with metabolic abnormalities but their etiology remains largely unknown. The gene for carnitine palmitoyltransferase 1B (CPT1B) and abnormally low serum acylcarnitine level have been linked to NT1 ...
M. Honda, Y. Shigematsu, Mihoko Shimada, Y. Honda, K. Tokunaga, T. Miyagawa   +5 more
semanticscholar   +1 more source

Hypersomnia. [PDF]

Missouri medicine, 2019
Adequate alertness is necessary for proper daytime functioning. Impairment of alertness or increase in sleepiness results in suboptimal performance and adversely affects the quality of life. While some causes of somnolence are intrinsic to the brain circuitry and neurochemical architecture, others are due to maladaptive behaviors and disorders ...
Pradeep C, Bollu, Sivaraman, Manjamalai, Mahesh, Thakkar, Pradeep, Sahota   +3 more
openaire   +3 more sources

The Kleine-Levin Syndrome: A Rare Disease with Often Delayed Diagnosis—A Report of Two Cases in the Department of Neurology of the University Hospital of Cocody (Côte d’Ivoire)

Case Reports in Neurological Medicine, 2016
The Kleine-Levin syndrome is a rare pathology characterized by recurrent episodes of hypersomnia associated with behavioral and cognitive disorders with, among others, hyperphagia and hypersexuality. The disease mainly affects young males.
Berthe Assi, Constance Yapo-Ehounoud, Mohamed Ben Allaoui Baby, Evelyne Aka-Diarra, Muriel Amon-Tanoh, Christian Tanoh   +5 more
doaj   +1 more source

SPECT in the Kleine-Levin syndrome, a possible diagnostic and prognostic aid?

Frontiers in Neurology, 2014
INTRODUCTION: Kleine-Levin syndrome (KLS) is a rare syndrome of periodic hypersomnia and behavioral and cognitive symptoms based on clinical criteria.
Patrick Emanuel Vigren, Patrick Emanuel Vigren, Maria eEngström, Maria eEngström, Anne-Marie eLandtblom, Anne-Marie eLandtblom, Anne-Marie eLandtblom   +6 more
doaj   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Dosing Optimization of Low-Sodium Oxybate in Narcolepsy and Idiopathic Hypersomnia in Adults: Consensus Recommendations

Neurological Therapeutics
Low-sodium oxybate (LXB) is approved for treatment of narcolepsy in patients aged 7 years and older and treatment of idiopathic hypersomnia in adults. LXB contains the same active moiety with 92% less sodium than sodium oxybate (SXB).
A. Morse, Richard K. Bogan, Asim Roy, M. Thorpy   +3 more
semanticscholar   +1 more source

Sleeping through a pandemic: impact of COVID-19–related restrictions on narcolepsy and idiopathic hypersomnia

Journal of Clinical Sleep Medicine (JCSM), 2021
To assess the impact of coronavirus disease 2019 (COVID-19)–related restrictions on narcolepsy type 1 (NT2), narcolepsy type 2 (NT2), and idiopathic hypersomnia (IH).
M. Nigam, A. Hippolyte, P. Dodet, A. Gales, J. Maranci, S. Al-Youssef, S. Leu-Semenescu, I. Arnulf   +7 more
semanticscholar   +1 more source

Patients With Atypical Symptoms of Depression Respond Better to Lithium Augmentation Than Patients Without Atypical Symptoms

Acta Psychiatrica Scandinavica, EarlyView.
ABSTRACT Introduction Understanding the differences in treatment response between subtypes of major depressive disorder (MDD) may help to prevent lengthy trial‐and‐error processes by identifying effective treatment options. The aim of the study was to investigate the impact of atypical features of MDD (MDD‐A) on the response to lithium augmentation (LA)
Hannah Buchbauer, Mazda Adli, Peter Schlattmann, Maximilian Berger, Tom Bschor, Thomas Stamm, Joachim Behr, Roland Ricken, Pichit Buspavanich   +8 more
wiley   +1 more source