Treatment efficacy for infantile epileptic spasms syndrome in children with trisomy 21 by Henry Chen, Henry Chen, Adam L. Numis, Adam L. Numis, Renée A. Shellhaas, John R. Mytinger, Debopam Samanta, Rani K. Singh, Rani K. Singh, Shaun A. Hussain, Danielle Takacs, Kelly G. Knupp, Li-Rong Shao, Carl E. Stafstrom

“…BackgroundInfantile Epileptic Spasms Syndrome (IESS) is the most common epilepsy syndrome in children with trisomy 21. First-line standard treatments for IESS include adrenocorticotropic hormone (ACTH), oral corticosteroids, and vigabatrin. …”
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Considerações a propósito do tratamento medicamentoso de 1217 pacientes epilépticos: I: estudo em relação ao tipo de epilepsia e ao eletrencefalograma Drug treatment of 1.211 epile... by Luís Marques-Assis

“…Concerning the type of seizures, the author draws the following conclusions : 1) the evolution was better in patients with Bravais-Jackson seizures; 2) the highest percentual rate of remission was shown by patients with sleep seizures (59,0%); 3) the patients with "grand mal" seizures without aura were the most refractory to the treatment; 4) the patients with generalized fits secondary to focal discharges showed the best results, although evidencing lowest remission index; 5) among all types of seizures, the Bravais-Jacsonian fits showed better evolution, specially the cases without generalization; 6) significant differences of evolution were not found between convulsive and non convulsive epilepsy. The electroencephalographic study led the author to the following conclusions: 1) the evolution was better in cases with normal EEG; 2) the evolution was better in cases with paroxystic, bilateral and synchronic dysrhythmia than in cases with diffuse abnormalities in sensu latu and with focal abnormalities; 3) the patients with temporal dysrhythmia showed the lowest remission index; 4) the patients with unilateral temporal dysrhythmia showed better evolution than those with bilateral temporal dysrhythmia; 5) the patients with right temporal dysrhythmia presented the lowest remission index.…”
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Clinical use of whole exome sequencing in children with developmental delay/intellectual disability by Yoon Hee Jo, Soo Han Choi, Hye Won Yoo, Min Jung Kwak, Kyung Hee Park, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Bo Lyun Lee, Woo Yeong Chung, Seung Hwan Oh, Young Mi Kim

“…Hypotonia was the most common symptom (17 patients, 41.5 %), and epilepsy was confirmed in 10 patients (24.4 %). Twenty-two pathogenic/likely pathogenic variants were identified in 20 patients, and three variants of uncertain significance were identified in three patients. …”
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Cannabichromene from full-spectrum hemp extract exerts acute anti-seizure effects through allosteric activation of GABAA receptors by Zihan Wang, Haoran Zheng, Hui Yang, Huifang Song, Jingjing Lian, Chao Peng, Han Wang, Hanbo Zhang, Yulin Zheng, Qiufeng Wang, Lan Lan, Guifang Duan, Lin Ma, Xiaodong Peng, Zhuo Huang

“…The approval of Epidiolex, an anti-epileptic drug containing cannabidiol (CBD) as its active component, has brought hope to patients with refractory epilepsy. However, the anti-seizure effect of full-spectrum hemp extract (HE), a CBD-enriched hemp oil, remains unclear. …”
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Risk factors for neurologic sequelae in children and adolescents with hemophilia after intracranial hemorrhage by Melike Sezgin Evim, Ayşegül Ünüvar, Canan Albayrak, Emine Zengin, Ebru Yılmaz, Zühre Kaya, Nihal Karadaş, Mehtap Ertekin, Hülya Üzel, Gül Nihal Özdemir, Davut Albayrak, Funda Tayfun Küpesiz, Ayşenur Bahadır, Hüseyin Tokgöz, Kamuran Karaman, Barış Yılmaz, Sinan Akbayram, Burçak Tatlı Güneş, Burcu Belen Apak, Can Acıpayam, Yusuf Ziya Aral, Serap Karaman, Hale Ören

“…The most common neurologic sequela was epilepsy (n = 11/25), followed by hemiparesis (n = 5/25). …”
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The Clinical Significance of Abnormal Electroencephalography (EEG) Patterns in Patients with Neuropsychiatric Disorders Due to Anti-NMDA Receptor Encephalitis: A Comparative Study by Alvaro Moreno-Avellán, Arely Juarez-Jaramillo, Maria del Carmen Fernandez Gonzalez-Aragon, Gerardo Quiñones-Pesqueira, Luz Maria Pineda-Centeno, Mariana Espinola-Nadurille, Victoria Martinez-Angeles, Francisco Martinez-Carrillo, Veronica Rivas-Alonso, Daniel San-Juan, Jose Flores-Rivera, Jesus Ramirez-Bermudez

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Perceptions about chronic health conditions, multimorbidity and self-management practices in rural northeast South Africa: findings from a qualitative study by Edward Fottrell, Stephen Tollman, F Xavier Gómez-Olivé, Rochelle Burgess, Alisha N Wade, Audry Dube, Nicola Joan Christofides, Belinda J Njiro, Chodziwadziwa Whiteson Kabudula

“…Participants also highlighted the role of religion in the control of chronic disease risk factors and traditional treatments for uncommon conditions such as epilepsy. Costs associated with lifestyle changes and equipment to manage and monitor health were highlighted as barriers to self-management of chronic health conditions.Conclusions Our findings contribute to emerging research on chronic health conditions and self-management approaches. …”
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Integrating genome and transcriptome analysis to decipher balanced structural variants in unsolved cases of neurodevelopmental disorders by Simona Mellone, Alice Spano, Denise Vurchio, Giulia Borgonovi, Giulia Borgonovi, Alessandro Ugonotti, Giulia Paglino, Alba Bianco, Sara Ronzani, Maurizio Sciancalepore, Flavia Prodam, Flavia Prodam, Amanda Papa, Maurizio Viri, Umberto Dianzani, Umberto Dianzani, Mara Giordano, Mara Giordano

“…The concurrent disruption of RBFOX3 at 17q13 suggested additional neurological implications, particularly related to epilepsy. Transcriptomic analysis demonstrated the monoallelic and significantly reduced expression of EP300.ConclusionThese findings highlight the crucial role of WGS in identifying disease-associated BCAs and underscore the complementary value of RNA-Seq in assessing their functional consequences. …”
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Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine by Julián Nevado, Julián Nevado, Julián Nevado, Filippo Ciceri, Cristina Bel-Fenellós, Jair A. Tenorio-Castaño, Jair A. Tenorio-Castaño, Jair A. Tenorio-Castaño, Tamara Maes, Jordi Xaus, Carlos Buesa, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina

“…Individuals with PMS are affected by a variable degree of intellectual disability, delay or absence of speech, low muscle tone, motor delay epilepsy, and autistic features. We have performed an observational trial aimed to psychometrically characterize individuals carrying deletions or pathogenic variants in SHANK3, to eventually build a foundation for a subsequent precision psychiatry clinical trial with vafidemstat, a LSD1 inhibitor in Phase II clinical development.MethodsWe have conducted a pilot study to clinically characterize the profile of 30 subjects, all diagnosed of molecularly confirmed PMS. …”
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Distúrbios de conduta com predomínio de agressividade, irritabilidade, impulsividade e instabilidade: estudo clínico-eletrencefalográfico de 100 casos Behaviour disorders with pred... by J. Carvalhal Ribas, Eneida Baptistete, Carlos A. Vieira Fonseca, Içami Tlba, Horácio S. Coutinho Filho

“…It was unexpected, however, the high incidence of cerebral disrythmia in this work: 68% against approximately 10% found among the population in general, according to the monographs about epilepsy and electroencepholography. So great a difference exempts any statistic analysis and indicates an extremely important factor in the origin of behaviour disturbs which, however, is not usually valuated and not even mentioned in the studies about that subject. …”
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The Microbiota–Gut–Brain Axis and Neurological Disorders: A Comprehensive Review by Mohammed M. Nakhal, Lidya K. Yassin, Rana Alyaqoubi, Sara Saeed, Alreem Alderei, Alya Alhammadi, Mirah Alshehhi, Afra Almehairbi, Shaikha Al Houqani, Shamsa BaniYas, Haia Qanadilo, Bassam R. Ali, Safa Shehab, Yauhen Statsenko, Sarah Meribout, Bassem Sadek, Amal Akour, Mohammad I. K. Hamad

“…These include Alzheimer’s disease (AD), autism spectrum disorder (ASD), Rett syndrome, attention deficit hyperactivity disorder (ADHD), non-Alzheimer’s neurodegeneration and dementias, fronto-temporal lobe dementia (FTLD), Wilson–Konovalov disease (WD), multisystem atrophy (MSA), Huntington’s chorea (HC), Parkinson’s disease (PD), multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), temporal lobe epilepsy (TLE), depression, and schizophrenia (SCZ). …”
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Disuse-driven plasticity in the human thalamus and putamen by Roselyne J. Chauvin, Dillan J. Newbold, Ashley N. Nielsen, Ryland L. Miller, Samuel R. Krimmel, Athanasia Metoki, Anxu Wang, Andrew N. Van, David F. Montez, Scott Marek, Vahdeta Suljic, Noah J. Baden, Nadeshka Ramirez-Perez, Kristen M. Scheidter, Julia S. Monk, Forrest I. Whiting, Babatunde Adeyemo, Jarod L. Roland, Abraham Z. Snyder, Benjamin P. Kay, Marcus E. Raichle, Timothy O. Laumann, Evan M. Gordon, Nico U.F. Dosenbach

“…Importantly, thalamic plasticity effects are focal to nuclei used as deep brain stimulation targets for essential tremor/Parkinson’s disease (VIM) and epilepsy/coma (CM).…”
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Analysis of the Phenotypes in the Rett Networked Database by Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

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Prevalence, incidence and modifiable factors for subtypes of mild cognitive impairment: results from the Longitudinal Ageing Study in China by Wei Chen, Yuanyuan Liu, Xulai Zhang, Juan Li, Ying Liu, ChenCheng Zhang, Shifu Xiao, Tao Wang, Yong Lu, Huali Wang, Yiru Fang, Yuping Wang, Feng Yan, Ning Su, Haining He, Yanchen Shi, Minjie Zhu, Muni Tang, Feng Bao, Yefeng Yuan, Xiaoyun Zuo, Lijuan Cui, Wenyuan Wu

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Identifying serious underlying diagnoses among patients with brief resolved unexplained events (BRUEs): a Canadian cohort study by Sanjay Mahant, Nassr Nama, Ronik Kanani, Jessica Foulds, Julie Quet, Anupam Sehgal, Ran D Goldman, Jeffrey N Bone, Peter Gill, Martin Ogwuru, Parnian Hosseini, Zerlyn Lee, Kara Picco, Josée Anne Gagnon, Joanna Holland, Falla Jin, Nardin Kirolos, Susan Akbaroghli, Chris Novak, Brigitte Parisien, Matthew Donlan, Polina Kyrychenko, Ioulia Opotchanova, Émilie Harnois, Alyse Schacter, Elisa Frizon-Peresa, Praveen Rajasegaran, Melody Wyslobicky, Prathiksha Nalan, Joel Tieder, Marie-Pier Goupil, Shawn Lee, Emy Philibert, Juliette Dufresne, Raman Chawla

“…Most patients (n=551, 52.9%) lacked an explanatory diagnosis; however, serious underlying diagnoses were identified in 7.6% (n=79). Epilepsy/infantile spasms were the most common serious underlying diagnoses (2.0%, n=21). …”
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Cardiac autonomic responses to cortical electrical stimulation: a SEEG study by Chouchou Florian, Soulier Hugo, Pichot Vincent, Mauguière François, Faillenot Isabelle, Guénot Marc, Hermier Marc, Jung Julien, Montavont Alexandra, Catenoix Hélène, Isnard Jean, Roche Frédéric, Rheims Sylvain, Mazzola Laure

“…We studied the direct autonomic cardiac effects produced by 1500 direct cortical electrical stimulations in 43 patients with epilepsy (32.8 ± 8.6 years old, 19 females) undergoing intracerebral recordings during presurgical evaluation. …”
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Validity of the Updated Rx-Risk Index as a Disease Identification and Risk-Adjustment Tool for Use in Observational Health Studies by Widagdo I, Kerr M, Kalisch Ellett L, Schlegel C, Sadeqzadeh E, Wang A, Clarke AL, Pratt N

“…The Rx-Risk Index showed high sensitivity (≥ 75%) for diabetes, chronic airways disease, hyperlipidemia, and epilepsy against both self-reported conditions and hospital diagnoses. …”
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Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders by Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Jaeso Cho, Minji Kim, Jiye Han, Hyounji Yun, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Anna Cho, Jin Sook Lee, Murim Choi, Alberto Fernandez-Jaen, Sebastian Silva, Reinaldo Uribe-San-Martín, Christian Cantillano, Noriko Miyake, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae

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Analysis of prognosis of neurological sequelae in children with carbon monoxide poisoning by Tuoying Wen, Jinghong Liang, Yulan Wei, Weijun Lin, Liya Pan

“…Children with cognitive abnormalities were more likely to develop epilepsy (38.5%, 5/13) and other system damage (53.8%, 7/13) during hospitalization, including pulmonary infection (3 cases), stressful gastrointestinal bleeding (2 cases), electrolyte imbalance (2 cases), dysfunction of liver, kidney or myocardial (3 cases), and some children had multiple system damage at the same time. …”
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Perampanel for alleviation of secondary injury in traumatic brain injury (PEACE-TBI): a protocol for a phase-II multicentre randomised clinical trial by Ryota Tamura, Yuki Kuranari, Yukina Morimoto, Masahiro Toda, Tokunori Kanazawa, Makoto Inaba, Ryo Yamamoto, Koichiro Homma, Takahiro Shoji, Junichi Sasaki, Masayuki Shimizu, Masato Nakaya, Satoshi Terao, Ryota Sasao, Makoto Katayama, Koichi Ueno, Yumiko Oishi, Akiyoshi Nakamura, Yo Kikuo, Ryosuke Murakami, Sota Wakahara, Konosuke Ishikawa, Kenzo Kosugi, Tatsuro Ozaki

“…This trial will include adult TBI patients with a Glasgow Coma Scale score of 9–14 from five tertiary centres. Patients with epilepsy as a comorbidity, delayed presentation of symptoms (>24 hours after injury) or Injury Severity Score of ≥25 will be excluded. …”
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