Results 161 to 170 of about 52,839 (293)

Role of EMG in congenital hypotonia with favorable outcome

, 2005
Background: Since hypotonia is the phenotype of several clinical conditions that do not always lead to a favorable outcome, prompt diagnosis is important.
Carboni P., Pisani F.
core  

Two Cases of <i>ASXL3</i>-Related Bainbridge-Ropers Syndrome: Clinical and Genetic Evaluation. [PDF]

Case Rep Genet
Baş ŞS, Yeter B, Elcioglu NH.
europepmc   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

A rare <i>de novo</i> contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review. [PDF]

Front Genet
Zhou X, Xie H, Yu H, Zhang Z, Qi Y, Jiang K, Lin S.   +6 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Benefit of Salbutamol for the Treatment of Neuromuscular Junction Dysfunction in Patients With Purine-Rich Element Binding Protein A (PURA) Syndrome. [PDF]

Cureus
Yau ML, Beck C, Fung EL, Yiu EM, Tewierik C, Leung CH, Cheung HM, Yam KK, Wong KN, O'Neill TS, Howell KB, Chong SC.   +11 more
europepmc   +1 more source

Dietary patterns in children with epilepsy: The role of household environment and clinical comorbidities

Epileptic Disorders, EarlyView.
Abstract Objective To evaluate dietary patterns in children with epilepsy and compare them with age‐ and sex‐matched healthy siblings living in the same household environment. Associations between clinical characteristics and dietary adequacy were also examined.
Ana Claudia Cândido Oliveira, Maria Eduarda Pereira Santana, Giuliane V. M. Zanin, Jaqueline Lamas da Silva, Camila Borelli Zeller, Ana Carolina Coan   +5 more
wiley   +1 more source

A Novel MYO5A Mutation (c.3508C>T) in a 27-Month-Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1. [PDF]

Case Reports Immunol
AmirKashani D, Hosseini S, Mojbafan M, Sharifinejad N, Bahrami S.   +4 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Novel biallelic multi-exon duplication in the PIGN gene associated with multiple congenital anomalies-hypotonia-seizures syndrome 1. [PDF]

BMC Pediatr
Li X, Wang X, Zhu J, Li H.
europepmc   +1 more source