Results 61 to 70 of about 2,146 (170)

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

Long‐Term Follow‐Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Mitochondrial carbonic anhydrase VA (CA‐VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the CA5A gene. It presents with hyperammonemia, lactic acidosis, and ketonuria, with or without hypoglycemia. We report the long‐term follow‐up of the first two reported cases of CA‐VA deficiency: a 16‐year‐old female ...
Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker‐Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova‐Zivkovic   +5 more
wiley   +1 more source

Epidemiology of Infantile Spasms in Iceland

Pediatric Neurology Briefs, 1994
Incidence, etiology, development, EEG, response to ACTH, and follow-up of all cases of infantile spasms diagnosed in Iceland during a 10-year period are reported from the National University Hospital, Reykjavik, Iceland, and Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

Theophylline-Induced Infantile Spasms

Pediatric Neurology Briefs, 1995
Infantile spasms and hypsarrhythmia developed in a 6-month-old infant with asthma after 3 days treatment with theophylline at the Royal Belfast Hospital for Sick Children, Northern Ireland.
J Gordon Millichap
doaj   +1 more source

Interictal EEG features as computational biomarkers of West syndrome

Frontiers in Pediatrics
BackgroundWest syndrome (WS) is a devastating epileptic encephalopathy with onset in infancy and early childhood. It is characterized by clustered epileptic spasms, developmental arrest, and interictal hypsarrhythmia on electroencephalogram (EEG ...
Jiaqing Li, An-an Ping, Yalan Zhou, Tangfeng Su, Xiaoli Li, Sanqing Xu   +5 more
doaj   +1 more source

Pineal and Ependymal Cysts and Infantile Spasms

Pediatric Neurology Briefs, 1995
A 3-month-old infant with infantile spasms and hypsarrhythmia associated with multiple pineal cysts and an ependymal cyst is reported from Marmara University Medical Center, Istanbul, Turkey.
J Gordon Millichap
doaj   +1 more source

Efficacy of Vigabatrin Oral Suspension in Infantile Epileptic Spasms Syndrome: A Systematic Review

Archives of Epilepsy
Infantile epileptic spasms syndrome is a rare and severe epilepsy syndrome in infants. It is identified by clusters of spasms, developmental regression, and hypsarrhythmia.
Vinod Kumar Singh, Ritu Jain, Rupa Rajbhadhandari, Vivek Tyagi   +3 more
doaj   +1 more source

Vigabatrin Monotherapy for Infantile Spasms

Pediatric Neurology Briefs, 1995
The successful management of 21 children with infantile spasms and hypsarrhythmia using vigabatrin monotherapy is reported from the Alder Hey Children’s Hospital, Liverpool, UK.
J Gordon Millichap
doaj   +1 more source

BRAIN TUMORS AND INFANTILE SPASMS

Pediatric Neurology Briefs, 1995
Two patients, aged 6 and 7 months, with brain tumors who presented with infantile spasms and hypsarrhythmia are reported from Sapporo and Asahikawa Medical Universities, Japan.
J Gordon Millichap
doaj   +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