Results 51 to 60 of about 88,012 (270)

Dravet syndrome in a 13-year-old child [PDF]

Journal of Clinical and Scientific Research, 2015
Dravet syndrome is a rare genetic epilepsy syndrome of infancy and childhood. It is characterized by occurrence of protracted febrile seizures in a normal infant followed by development of multiple seizure types and psychomotor retardation.
Vengamma B, Varadaraja J, Naveen T
doaj   +1 more source

Movement, mood and cognition: Preliminary insight into the effects of electroconvulsive therapy in depression through a data-driven resting-state connectivity analysis

European Psychiatry, 2021
Introduction ECT is an effective treatment for depression. Beyond its therapeutic effect on mood it has a unique impact on psychomotor and cognitive symptoms.Its mechanism of action remains still unclear.
J.-B. Belge, P. Mulders, J. Van Oort, L. Van Diermen, P. De Timary, E. Constant, P. Sienaert, D. Schrijvers, B. Sabbe, P. Van Eijndhoven   +9 more
doaj   +1 more source

Motor Performance in Autistic Youth From Childhood Through Adolescence: Evidence for Both Sustained and Widening Group Differences

Autism Research, EarlyView.
ABSTRACT Although motor‐skill differences in autistic individuals are well established, there is diverging evidence regarding what happens to motor skills in autistic children as they become adolescents. Using both cross‐sectional and longitudinal data, we examined fine and gross motor skills and grip strength of 187 autistic participants and 136 non ...
Allison R. Block, Emily C. Skaletski, Claire M. Sheedy, Ella A. Vanderpool, Brittany G. Travers   +4 more
wiley   +1 more source

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype

The Turkish Journal of Pediatrics, 2011
Chromosome 2q37 microdeletion syndrome is a rare disorder characterized by mild-moderate psychomotor and growth retardation, autistic-like behavior, Albright hereditary osteodystrophy-like metacarpal/metatarsal shortening, and facial ...
Pelin Ozlem Simşek-Kiper, Gülen Eda Utine, Yasemin Alanay, Dilek Aktaş, Mehmet Alikaşifoğlu, Koray Boduroğlu   +5 more
doaj  

Unertan Syndrome Quadrupedality,Primitive Language, and Severe Mental Retardation A New Theory on the Evolution of Human Mind [PDF]

, 2005
The recently discovered “UNERTAN SYNDROME” consists of quadrupedal gait, severe mental retardation, and primitive language. This syndrome can be considered as devolution of human being, throwing a light into the transition from quadrupedality to ...
Tan, Prof. Dr. Uner
core  

Postictal self‐removal of intracerebral electrodes during stereoelectroencephalography monitoring: A case series

Epileptic Disorders, EarlyView.
Abstract Epilepsy surgery remains the most effective treatment for focal drug‐resistant epilepsy, and stereoelectroencephalography (SEEG) is increasingly used to define the epileptogenic‐zone network (EZN) and guide curative or palliative interventions.
Ionuț‐Flavius Bratu, Romain Carron, Julia Makhalova, Stanislas Lagarde, Fabrice Bartolomei   +4 more
wiley   +1 more source

Cri du Chat syndrome [PDF]

, 2006
The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants.
Paola Cerruti Mainardi
core   +2 more sources

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures

The Turkish Journal of Pediatrics, 2009
Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine.
Turgay Coşkun, Halil Ibrahim Aydin, Mustafa Kiliç, Ali Dursun, Göknur Haliloğlu, Haluk Topaloğlu, Kader Karli-Oğuz, Tom J De Koning   +7 more
doaj  

Comparison of depression with anxious distress and melancholic depression from the perspective of psychomotor disturbance

PCN Reports
Aim In the DSM‐5, it is specified that severe cases of major depressive disorder with anxious distress (ANXD) may be accompanied with motor agitation.
Yu Tamada, Takeshi Inoue, Atsushi Sekine, Hiroyuki Toda, Minoru Takeshima, Masaaki Sasaki, Yota Fujimura, Susumu Ohmae   +7 more
doaj   +1 more source