Results 141 to 150 of about 1,995 (192)

Mechanisms of transport and analgesic compounds recognition by glycine transporter 2. [PDF]

Proc Natl Acad Sci U S A
Wang Y, Su J, Zhao J, Li R, Bai Q, Song H, Meng Y, Ma Q, Zhao Y.   +8 more
europepmc   +1 more source

Interictal focal epileptic discharges in a pediatric patient with absence status epilepsy: a mimicker of focal epilepsy. [PDF]

Epilepsy Behav Rep
Ohta K, Yoshino G, Togawa M, Okanishi T, Maegaki Y.   +4 more
europepmc   +1 more source

Histopathological Investigation of Progressive Encephalomyelitis with Rigidity and Myoclonus: An Autopsy Case Characterized by Oculomotor Dysfunction and Autonomic Failure. [PDF]

Intern Med
Yabata H, Nakamura R, Sugiyama S, Tamaki Y, Yamakawa I, Onoda S, Ishigaki H, Ikeda T, Akagi A, Itoh Y, Kushima R, Yoshida M, Iwasaki Y, Urushitani M.   +13 more
europepmc   +1 more source

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. [PDF]

Brain
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS.   +87 more
europepmc   +1 more source

An unusual case of hyperekplexia

European Journal of Paediatric Neurology, 2000
Hyperekplexia is a rare paroxysmal disorder characterized by exaggerated startle response, hypertonia during infancy and a transient increase in tone following startle attacks. We report an unusual case of hyperekplexia in a young man. In addition to common symptoms of the condition, we found generalized spasticity persisting beyond infancy, and facial
Heinz Jungbluth, Francesco Muntoni, Eugenio Mercuri   +2 more
exaly   +5 more sources

Saccadic eye movements in hyperekplexia

Movement Disorders, 1995
AbstractHyperekplexia is an autosomal dominant disorder characterized by excessive startle responses followed by a temporary generalized stiffness. The startle response is generated in the medial bulbopontine reticular formation in the lower brainstem.
J G van Dijk
exaly   +7 more sources

Hyperekplexia-associated mutations in the neuronal glycine transporter 2 [PDF]

Neurochemistry International, 2019
Hyperekplexia or startle disease is a dysfunction of inhibitory glycinergic neurotransmission characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli.
Esther Arribas-González, Beatriz Lopez Corcuera, Carmen Aragon   +2 more
exaly   +2 more sources

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Hyperekplexia

Journal of Child Neurology, 2012
Hyperekplexia is a rare neurologic disorder, characterized by excessive startle response to unexpected stimuli. There are 3 cardinal features: generalized stiffness immediately after birth that normalizes during the first year of life; excessive startle reflex to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness ...
Keung Kit, Chan, Sharon Wan-Wah, Cherk, Hencher Han-Chih, Lee, Wing Tat, Poon, Albert Yan-Wo, Chan   +4 more
openaire   +3 more sources

Hereditary Hyperekplexia in Saudi Arabia

Pediatric Neurology, 2022
Hyperekplexia is a rare disorder characterized by exaggerated startle responses to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been published on this disorder in populations with high rates of consanguinity.We retrospectively reviewed Saudi patients with genetically confirmed hereditary hyperekplexia using a ...
Mohammed Z Seidahmed, Fowzan S Alkuraya, Heba Y El Khashab   +2 more
exaly   +3 more sources