Results 21 to 30 of about 2,255 (147)
Time-Frequency Fingerprint Analysis in SEEG Source-Space to Identify the Epileptogenic Zone. [PDF]
Ann Clin Transl NeurolABSTRACT This case study highlights the application of seizure fingerprint analysis in the source‐space of stereo‐EEG (SEEG) data to accurately localize the epileptogenic zone (EZ) in patients with complex cortical malformations. A 25‐year‐old female with extensive bilateral perisylvian polymicrogyria (PMG) presented with intractable focal seizures ...
Vakilna YS +10 more
europepmc +2 more sources
Lissencephaly with Congenital Hypothyroidism: A Case Report
Journal of Nepal Medical Association, 2022 Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At
Shambhu Kumar Sahani +3 more
doaj +1 more source
Indian Journal of Psychological Medicine, 2015 Psychiatric manifestation of pachygyria, a neuronal migration disorder is rare in literature; rarer if it is bipolar disorder specifically. Here, we report a case of mania and seizure who subsequently diagnosed as pachygyria.
Seshadri Sekhar Chatterjee +3 more
doaj +1 more source
Turkish family with Dysequilibrium syndrome with a novel mutation in the VLDLR gene.
Journal of Biochemical and Clinical Genetics, 2019 Background: A very few diseases are reported caused due to cerebellar hypoplasia and neuronal migration defects like pachygyria. Cerebellar Ataxia, mental retardation, and Dysequilibrium Syndrome 1 (DES) (OMIM # 224050) are one among such group of ...
Muhsin Elmas +5 more
doaj +1 more source
Pediatric Neurology Briefs, 1991 A 12 month old male infant with the CHARGE syndrome (Coloboma, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, Ear anomalies or deafness) is reported from the Departments of Pediatrics and Neurology, Loyola ...
J Gordon Millichap
doaj +1 more source
European Psychiatry, 2023 Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual disability due to congenital brain anomalies. There is recommendation to exclude the presence of CNV or
E. A. Fonova +13 more
doaj +1 more source
Septo-optic dysplasia with pachygyria
Medical Journal of Dr. D.Y. Patil University, 2014 Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is
Abhay A Lune, Sonali A Lune
doaj +1 more source
Бюллетень сибирской медицины, 2018 Brain malformations are one of the most frequent causes of epilepsy in childhood. In patients with malformations of the brain epilepsy is diagnosed in 75–80% of cases.
V. I. Guzeva +5 more
doaj +1 more source
BMC Medical Genomics, 2021 Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons.
Carla De Angelis +14 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2023 Malformation of cortical development (MCD) is a family of neurodevelopmental disorders, which usually manifest with intellectual disability and early-life epileptic seizures.
Nuria Ruiz-Reig +5 more
doaj +1 more source