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Sleep complaints in individuals with SYNGAP1-associated syndrome.
Sleep Med
December 2024
Sleep Institute, Associação Fundo de Incentivo à Pesquisa (AFIP), São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address:
Neurodevelopmental disorders pose significant clinical challenges related to atypical brain development, often manifesting as learning disabilities, developmental delays, intellectual deficits, behavioral issues, epilepsy, and sleep disturbances. Among genetic neuropsychiatric conditions, synaptopathies are notable for their impact on synaptic function, resulting in varied neuropsychiatric phenotypes. Among these, SYNGAP1-associated syndrome is characterized by intellectual disability, global developmental delay, autism, and epilepsy, primarily due to loss-of-function mutations.
View Article and Find Full Text PDFReal-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.
Ann Med
December 2025
Research Group of Humanities and Qualitative Research in Health Science of Universidad Rey Juan Carlos (Hum&QRinHS), Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Universidad Rey Juan Carlos, Alcorcón, Spain.
Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.
Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.
Epileptiform discharges in the context of self-limited pediatric focal epilepsy (EDSelFEC) in pediatric hemispherotomy patients: Role of white matter abnormalities.
Epileptic Disord
December 2024
Center for Pediatric Neurology and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Vogtareuth, Germany.
Objective: To investigate the frequency of epileptiform discharges associated with self-limited focal epilepsy (EDSelFEC) in children who have undergone a hemispherotomy and to evaluate whether patients with coexistence of EDSelFEC and structural hemispheric epilepsies differ from patients without coexistence of EDSelFEC and whether there are differences between the two groups with regard to preoperative management and postoperative outcome.
Methods: Data on 131 children who underwent a hemispherotomy between January 1999 and January 2015 were retrieved from the Epilepsy center's epilepsy surgery database. Children with EDSelFEC were compared with children without EDSelFEC with respect to epileptogenic hemispheric pathology, family history, age at epilepsy onset, timing of surgery, lesion laterality, preoperative cognitive function, response to sodium channel blocker antiepileptic medication, and surgical outcome.
Brain malformation, neurodevelopmental disorder and epilepsy in a case of two rare genetic diseases: overlapping phenotype.
Neurogenetics
December 2024
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
In most cases there is a single etiological factor causing neuromotor developmental delay and epilepsy while sometimes more than one gene may be involved. These include the autosomal recessive inherited CAMSAP1 gene, which is associated with cortical developmental malformations such as pachygyria and lissencephaly and the autosomal dominant inherited NBEA gene, which plays crucial roles in vesicle trafficking as well as synapse structure and function. Loss of function of both genes together is a well-known disease mechanism.
View Article and Find Full Text PDFEarly Neonatal Epilepsy Caused by Homozygous Mutation in the SLC13A5 Gene: A Case Report From India.
Cureus
November 2024
Pediatrics and Neonatology, Rani Hospital and Research Centre, Ranchi, IND.
Early neonatal seizures have myriad causes and variable prognoses. While acute symptomatic seizures are the most common events, a significant number of cases have a genetic background for such seizures, and a timely diagnosis can help in appropriate management and prognostication. We present a case of a neonate referred to our center with multi-focal clonic seizure starting from the first day of life.
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