Results 211 to 220 of about 2,272,583 (371)

Refractory status epilepticus: Febrile Illness Related Epileptic Syndrome (FIRES) [PDF]

, 2015
Varun Sharma, Anaita Hegde, Fazul Nabi
openalex   +1 more source

Age‐Related Trajectories of Autistic Traits in Children With Angelman Syndrome

Autism Research, EarlyView.
ABSTRACT Angelman syndrome (AS) is a rare neurogenetic disorder. Previous studies indicate a high prevalence of autism spectrum disorder (ASD) with considerable variability. Little is known regarding the longitudinal trajectory of autistic traits. We aim to investigate autistic traits, the effect of age on these traits, and associated features in AS ...
Doesjka A. Hagenaar, Sabine E. Mous, Leontine W. ten Hoopen, André B. Rietman, Kamil R. Hiralal, Karen G. C. B. Bindels‐de Heus, Pieter F. A. de Nijs, Theresa C. Mohr, Eline J. Lens, Manon H. J. Hillegers, Henriette A. Moll, Marie‐Claire Y. de Wit, Gwen C. Dieleman   +12 more
wiley   +1 more source

Unveiling Molecular Dynamics of MeCp2, CDKL5 and BDNF in the Hippocampus of Individuals With Intractable Mesial Temporal Lobe Epilepsy. [PDF]

J Cell Mol Med
Meshkinkhood N, Barati Dowom P, Noorbakhsh F, Ghadipasha M, Gharehdaghi J, Kellinghaus C, Speckmann EJ, Khaleghi Ghadiri M, Stummer W, Gorji A.   +9 more
europepmc   +1 more source

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy [PDF]

, 2020
Nicolas Chatron, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz, Sandra Roselli, Maryam Najafi, Dilek Uludağ Alkaya, Farah Ashrafzadeh, Amira Nabil, Tarek Omar, Reza Maroofian, Ehsan Ghayoor Karimiani, Haytham Hussien, Fernando Kok, Luiza Ramos, Nilay Güneş, Kaya Bilgüvar, Audrey Labalme, Eudéline Alix, Damien Sanlaville, Julitta de Bellescize, Anne‐Lise Poulat, Ingo Helbig, Sarah von Spiczak, Stéphanie Baulac, Nina Barišić, Rudi Balling, Hande Çağlayan, Dana Craiu, Renzo Guerrini, Karl Martin Klein, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Katalin Štěrbová, Yvonne G. Weber, Ali‐Reza Moslemi, Holger Lerche, Patrick May, Gaëtan Lesca, Sarah Weckhuysen, Homa Tajsharghi   +44 more
openalex   +1 more source

Semi‐Automated Multi‐Label Classification of Autistic Mannerisms by Machine Learning on Post Hoc Skeletal Tracking

Autism Research, EarlyView.
ABSTRACT Mannerisms describe repetitive or unconventional body movements like arm flapping. These movements are early markers of restricted and repetitive behaviors (RRBs) in autism spectrum disorder (ASD). However, assessing mannerisms reliably is challenging.
Christian Lemler, Solvejg K. Kleber, Leonie Polzer, Naisan Raji, Janina Kitzerow‐Cleven, Ziyon Kim, Simeon Platte, Christine M. Freitag, Nico Bast   +8 more
wiley   +1 more source

The Oral Findings and Dental Management of Patients with West Syndrome: A Case Series and Literature Review. [PDF]

J Clin Med
Limeres-Posse J, Muñoz-Navarro C, García-Mato E, Sande-López L, Diniz-Freitas M, Diz-Dios P, Rivas-Mundiña B.   +6 more
europepmc   +1 more source

A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome [PDF]

, 2020
Gaetano Terrone, Francesca Marchese, Maria Stella Vari, Mariasavina Severino, Francesca Madia, Elisabetta Amadori, Ennio Del Giudice, Alfonso Romano, Elena Di Gennaro, Federico Zara, Pasquale Striano   +10 more
openalex   +1 more source

Autistic Traits and Emotion Dysregulation in 5–11‐Year‐Old Intellectually Able Children With Autism Spectrum Condition: Mediating Role of Emotion Regulation Strategies

Autism Research, EarlyView.
ABSTRACT Emotion dysregulation (ED) is common among children with an autism spectrum condition (ASC). However, the mechanisms underlying emotion regulation strategies (ERSs) and their impacts on ED in this population remain unclear. The current study examined whether ED is directly related to autistic traits or mediated by deficits in ERSs after ...
Hsin‐Hui Lu, Angana Nandy, Hsing‐Chang Ni   +2 more
wiley   +1 more source

Breaking the Synaptic Vesicle Cycle: Mechanistic Insights into Presynaptic Dysfunctions in Epilepsy. [PDF]

Epilepsy Curr
Jiang K, Yang LT, Xue M.
europepmc   +1 more source

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome [PDF]

, 2020
Pedro A. Lazo, Juan Luis Garcı́a, Paulino Gómez‐Puertas, Íñigo Marcos‐Alcalde, César Arjona, Álvaro Villarroel, Rogelio González‐Sarmiento, Carmen Fons   +7 more
openalex   +1 more source