Results 41 to 50 of about 4,566 (168)

Intracranial EEG Seizure-Onset Patterns

Pediatric Neurology Briefs, 2014
Investigators at Montreal Neurological Institute and Hospital, Canada, studied intracranial electroencephalographic seizure-onset patterns associated with different epileptogenic lesions, and defined high-frequency oscillation correlates of each pattern.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

Molecular Genetics & Genomic Medicine, 2019
Background Megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K‐AKT pathway. Only a few patients with
Gerarda Cappuccio, Lorenzo Ugga, Elena Parrini, Alessandra D’Amico, Nicola Brunetti‐Pierri   +4 more
doaj   +1 more source

Outcome of Hemispherectomy for Epilepsy

Pediatric Neurology Briefs, 2003
The clinical course and outcomes of 33 children with refractory epilepsy and hemiplegia are evaluated following hemispherectomy at Great Ormond Street Hospital, London, between 1991 and 1997, with particular reference to the underlying pathology, freedom
J Gordon Millichap
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Bilateral Perisylvian Syndrome with Typical Imaging Features– A Case Report [PDF]

International Journal of Anatomy Radiology and Surgery, 2019
Bilateral perisylvian syndrome is a congenital neurological disorder characterised by abnormal distribution of neurons in cortex. Unilateral entity may also occur but is less common.
Rama Krishna Narra, Anne Mahesh Krishna, Boddepalli Manjeera, Putcha Anusha   +3 more
doaj   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

The Laryngoscope, EarlyView.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal, Jackie Chiang, Evan J. Propst, Nikolaus E. Wolter   +3 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Central Nervous System Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objectives This study demonstrates the central nervous system (CNS) abnormalities detected using fetal post‐mortem micro‐focus computed tomography (Micro‐CT), independent of whether the abnormality contributed to the main diagnosis or cause of death.
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Surgery for Cortical Malformations Causing Epilepsy

Pediatric Neurology Briefs, 2000
The results of surgical treatment for malformations of cortical development (MCD) causing refractory epilepsy are reviewed from the Institute of Neurology, Queen Square, London, UK.
J Gordon Millichap
doaj   +1 more source

Neuropathologic findings and age‐related differences in Finnish pediatric medico‐legal autopsies

Journal of Forensic Sciences, EarlyView.
Abstract Neuropathological examination plays a critical role in medico‐legal cause‐of‐death investigation, especially in determining the cause and manner of death in pediatric autopsies. Although a comprehensive neuropathological examination is recommended, limited data exists of the diagnostic yield of neuropathology consultations in such cases.
Elias Hakanen, Petteri Oura, Paula Katriina Vauhkonen   +2 more
wiley   +1 more source