Results 51 to 60 of about 98,828 (291)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Traumatic brain injury: molecular biomarkers, genetics, secondary consequences, and medical management

Frontiers in Neuroscience
Traumatic brain injury (TBI) has reached epidemic proportions worldwide. The consequences of TBI can be severe even with repetitive mild trauma. If death and coma are avoided, the consequences of TBI in the long term typically involve dizziness, sleep ...
Robert H. Lipsky, Robert H. Lipsky, Jeffrey M. Witkin, Jeffrey M. Witkin, Hana Shafique, Jodi L. Smith, Rok Cerne, Ann M. Marini, Ann M. Marini   +8 more
doaj   +1 more source

Atypical psychiatric symptoms associated with left temporal lesion: two cases

Psychiatry and Clinical Psychopharmacology, 2021
Brain lesion is a major risk factor for the development of psychiatric symptoms. There is an association between lesion type, location, and psychiatric symptoms.
Yavuz Selvi, Adem Aydin, Lutfullah Besiroglu   +2 more
doaj  

Mechanisms of levetiracetam in the control of status epilepticus and epilepsy

Frontiers in Neurology, 2014
Status epilepticus (SE) is a major clinical emergency that is associated with high mortality and morbidity. SE causes significant neuronal injury and survivors are at a greater risk of developing acquired epilepsy and other neurological morbidities ...
Laxmikant S Deshpande, Robert J DeLorenzo   +1 more
doaj   +1 more source

Acetazolamide in the treatment of acute mania - A case report [PDF]

, 1998
Several antiepileptic drugs are also being used in affective disorders. There are some hints that also the carbonic anhydrase inhibitor acetazolamide might be useful in the treatment of bipolar affective disorder.
Brandt, C., Grunze, Heinz, Normann, C., Walden, Jörg   +3 more
core   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

The epidemiology and phenomenology of non-antipsychotic-induced dystonia: a hybrid systematic-narrative review

European Psychiatry
Background Medication-induced dystonia (MID) is a movement disorder (MD), characterized by involuntary sustained or intermittent muscle contractions, causing abnormal, often repetitive, movements, postures, or both.
Kirsten Catthoor, Johan Detraux, Marc De Hert   +2 more
doaj   +1 more source

Successful Treatment of Primary Orthostatic Tremor Using Perampanel

Tremor and Other Hyperkinetic Movements, 2019
Background: Primary orthostatic tremor (POT) remains a therapeutic conundrum. Various medication classes have been tried, yielding modest results at best.
Anant Wadhwa, Sara M. Schaefer
doaj   +1 more source

Safety profile of oxcarbazepine: results from a prescription-event monitoring study [PDF]

, 2010
Purpose: To monitor safety of oxcarbazepine, prescribed in primary care in England, using prescription-event monitoring (PEM). Methods: Postmarketing surveillance using observational cohort technique of PEM.
Buggy, Y., Fogg, Carole, Layton, D., Shakir, S.   +3 more
core   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source