Results 51 to 60 of about 6,098 (248)

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. [PDF]

, 2011
Paroxysmal non-kinesigenic dyskinesia (PNKD) is a rare autosomal dominant movement disorder triggered by stress, fatigue or consumption of either alcohol or caffeine.
Babbitt, Patricia, Fu, Ying-Hui, Lee, Hsien-Yang, Ojha, Sunil, Ptácek, Louis J, Rawson, Joel, Shen, Yiguo   +6 more
core   +2 more sources

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 459-467, February 2026.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Genetics of Familial Infantile Convulsions

Pediatric Neurology Briefs, 1997
Four families from northwestern France with autosomal dominant benign infantile convulsions and paroxysmal choreoathetosis were studied genetically by linkage analysis at the Wellcome Trust Centre for Human Genetics, University of Oxford, UK, and at ...
J Gordon Millichap
doaj   +1 more source

Nervous System and Gastrointestinal Effects of the Insecticide Esfenvalerate on the Rat: An Ex Vivo Study [PDF]

, 2014
Esfenvalerate belongs to the pyrethroid group of insecticides which display significant selective toxicity against insects compared to mammalian species, nevertheless, they may pose health risks, especially in case of accidental exposure.
Kovács, Melinda, Szabó, Eszter, Varró, Petra, Világi, Ildikó   +3 more
core   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Choreoathetosis – an unusual adverse effect of dihydroartemisinin-piperaquine: a case report

Journal of Medical Case Reports, 2017
Background Dihydroartemisinin-piperaquine is a combination of dihydroartemisinin and piperaquine which is highly effective in the treatment of uncomplicated falciparum malaria. Its adverse effects are generally tolerable and temporary.
Benjamin Momo Kadia, Christian Morfaw, Armelle Corrine Gounoue Simo   +2 more
doaj   +1 more source

Unilateral Negative Myoclonus Caused by Herpes Simplex Virus Encephalitis [PDF]

Journal of Movement Disorders, 2011
Various neurologic manifestations of herpes simplex virus (HSV) encephalitis have been reported on the literatures. Chorea, ballism, choreoathetosis and myoclonus were reported as movement disorders which might be related with brain lesion by HSV ...
Jin-Mo Park, Jin-Sung Park, Yong-Won Kim, Ho-Won Lee, Da-In Lee, Sung-Pa Park, Hyun Seok Song   +6 more
doaj   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Modeling cerebral palsy in animals

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 158-174, February 2026.
Abstract Advancements in the treatment of cerebral palsy depend on animal research. Yet, most animal models have not been fully evaluated for spasticity and dystonia using clinically relevant measures of altered tone or movement patterns, which form the basis for diagnosing people with the condition.
Katharina A. Quinlan, Emily J. Reedich, Elvia Mena Avila, Brendan C. Moline, Landon T. Genry, Megan R. Detloff, Benjamin R. Katholi, Deborah Gaebler‐Spira, Bhooma R. Aravamuthan   +8 more
wiley   +1 more source

Rare form of dyskinetic movements associated with alcohol withdrawal

Indian Journal of Psychological Medicine, 2016
Movement disorders are known to occur during alcohol withdrawal. Tremor, choreoathetosis, transient parkinsonism, myoclonus and dystonia have been previously described. The present report describes involuntary ′fluttering′ movements of fingers developing
Sathya Prakash, Yatan Pal Singh Balhara
doaj   +1 more source