Results 131 to 140 of about 1,226,813 (207)

Neuroimaging and neurophysiology in infantile‐onset epilepsy after neonatal stroke

Developmental Medicine &Child Neurology, EarlyView.
This population‐based retrospective cohort study of 55 newborn infants demonstrated that neonatal MRI and neonatal neurophysiology (amplitude‐integrated EEG, conventional EEG, and somatosensory evoked potentials) combined with follow‐up EEGs during the first year of life provide practical tools for identifying infants at the highest risk of developing ...
Sinikka La Grassa, Kirsi Mikkonen, Marjo Metsäranta, Sanna Toiviainen‐Salo, Sampsa Vanhatalo, Leena Lauronen, Päivi Nevalainen   +6 more
wiley   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey, Dawn Gano, Danielle Boyce, Rachel Vassar   +3 more
wiley   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

The Role of Hippocampal Interneuron Migration in Neurodevelopmental Disorders: A Systematic Review

Hippocampus, Volume 36, Issue 5, September 2026.
ABSTRACT Hippocampal abnormalities are frequently associated with neurodevelopmental disorders as interneurons are crucial in establishing the network connectivity of neurons. This systematic review analyzed primary literature with a focus on aberrant hippocampal interneuron migration as an etiology for neurodevelopmental disorders, summarizing the ...
M. A. C. Till, H. M. O. Reid, I. Murphy, B. R. Christie   +3 more
wiley   +1 more source

A case of infantile epileptic spasms syndrome and autism spectrum disorder with an RFX3 mutation

Seizure: European Journal of Epilepsy, 2023
Michiko Torio, Kenichi Maeda, Satoshi Akamine, Saori Kawakami, Yoshie Matsubara, Fuyuki Miya, Mitsuhiro Kato, Ryutaro Kira   +7 more
openaire   +2 more sources

Treatment Practices for Infantile Epileptic Spasms Syndrome: Consensus and Variation in Major Pediatric Epilepsy Centers.

BACKGROUND: Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy that requires prompt, effective treatment to optimize outcomes.
Bhatia, Sonal, Sirsi, Deepa, Briscoe, Christina, Hunter, Senyene E, Thio, Liu Lin, Sandoval Karamian, Amanda G, Samanta, Debopam, Donatelli, Stephanie, Planchart Ferretto, Maria A, Erdemir, Gozde, Shrey, Daniel W, Numis, Adam L, Hussain, Shaun A, Spriha, Pavuluri, Katyayan, Akshat, Singh, Avantika, Catenaccio, Eva, Harini, Chellamani, Rao, Chethan K, Bhalla, Sonam   +19 more
core   +1 more source

<i>RFX3</i> Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome. [PDF]

Int J Mol Sci
Ceraolo G, Spoto G, Trivisano M, Federico C, Vinci M, Calì F, Treccarichi S, Musumeci A, Di Rosa G, Specchio N, Nicotera AG.   +10 more
europepmc   +1 more source

KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes. [PDF]

Epileptic Disord
Gonzalez BJ, Juanes M, Touzon MS, Alonso C, Obregon Gomez LR, Moreno N, Prieto M, Persico AL, Valenzuela GR, Caraballo R.   +9 more
europepmc   +1 more source

Correction: Analysis of treatment outcome variations in infantile epileptic spasms syndrome. [PDF]

Front Neurol
Gong X, Gan J, Wang X, Chen J, Rao X, Wang J, Shen Y, Zhang J.   +7 more
europepmc   +1 more source