Results 191 to 200 of about 8,695 (262)

Detection of epileptic spasms using foundational AI and smartphone videos. [PDF]

NPJ Digit Med
Miron G, Halimeh M, Tietze S, Holtkamp M, Meisel C.   +4 more
europepmc   +1 more source

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

MedComm, Volume 7, Issue 7, July 2026.
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu, Xinyan Wu, Ting Yin, Feining Huang, Manqi Kong, Yu Yang, Zinan Liu, Jiabin Yu, Tianpeng Zhang   +8 more
wiley   +1 more source

One Size Does Not Fit All: Novel Individualized Use of Dexamethasone in Infantile Epileptic Spasms Syndrome. [PDF]

Neurol Ther
Kabak E, Leitner IC, Stark B, Gröppel G.   +3 more
europepmc   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum of MED13L‐Associated Neurodevelopmental Disorder: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Here we report a novel de novo duplication of exons 8–16 of the MED13L gene in a patient with MED13L syndrome, presenting with an unreported phenotype: cleft lip. A review of previously reported patients with MED13L copy number variants is also conducted to refine genotype–phenotype correlations.
Zhongqing Wang, Xin Chen, Ziyun Cui, Xinyue Qi, Li Gu, Yi Liu, Wenjing Zhao, Yan Jiang   +7 more
wiley   +1 more source

A model-based cost-effectiveness estimates of hormonal therapy in Indian children with infantile epileptic spasms syndrome. [PDF]

Epilepsia Open
Devi N, Madaan P, Bharti SK, Sahu JK, Bansal D.   +4 more
europepmc   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

A Case of Infantile Epileptic Spasms Syndrome with the <i>SPTBN1</i> Mutation and Review of βII-Spectrin Variants. [PDF]

Genes (Basel)
Jang HN, Ryu J, Kim SS, Moon JH.
europepmc   +1 more source

The Neuroprotective Effect of a Waste Byproduct Obtained From Pomegranate (Punica granatum)

Phytotherapy Research, Volume 40, Issue 7, Page 4588-4610, July 2026.
The Effect of a Waste Byproduct Obtained From Pomegranate on Neurodegeneration. ABSTRACT Pomegranate is an exceptional fruit that can have several beneficial effects on human health. The peel of pomegranate, a waste product, should be recovered as it still contains valuable constituents, including phenolic compounds, minerals and fibre. The recovery of
Jessica Maiuolo, Valeria Mazza, Rosamaria Caminiti, Francesca Oppedisano, Saverio Nucera, Salvatore Ragusa, Sara Ilari, Lucia Carmela Passacatini, Luigi Tucci, Giuseppe Trunfio, Vincenzo Mollace, Carolina Muscoli   +11 more
wiley   +1 more source

Late Cognitive or Mood Alterations With ‘Status Cribrosum’ and Diffuse White Matter Lesions: A New Cerebral Small Vessel Disease Phenotype Associated With Rare COL4A1 Variants Located Within Exon 23

European Journal of Neurology, Volume 33, Issue 7, July 2026.
We report four unrelated patients carrying rare COL4A1 glycine variants encoded by exon 23 and presenting with late‐onset cognitive and/or psychiatric symptoms. Brain MRI was characterised by a severe cerebral small vessel disease with diffuse white matter hyperintensities and prominent enlargement of basal ganglia perivascular spaces leading to a ...
Hélène Morel, Sophie Dufourd‐Delalande, William Bloch, Mathilde Graber, Sacha Weber, Carla Machado, Thibault Coste, Hugues Chabriat, Elisabeth Tournier‐Lasserve, Stéphanie Guey   +9 more
wiley   +1 more source

Brain tumours as an unrecognized etiology of infantile epileptic spasms syndrome (IESS): The role of resective epilepsy surgery. [PDF]

Epilepsy Behav Rep
Pentz R, Jones K, Mesterman R, RamachandranNair R, Otsubo H, Ochi A, Yau I, Donner EJ, Ibrahim GM, Jain P, Whitney R.   +10 more
europepmc   +1 more source