Non-convulsive status epilepticus revealing acute deterioration in AARS2 mutation–associated progressive leukoencephalopathy

Temporal association between adjunctive repetitive transcranial magnetic stimulation and seizure reduction in a pediatric patient with DNM1L-associated EMPF1: a case report

Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission 1 (EMPF1) is a rare, severe mitochondrial disorder characterized by acute-onset refractory seizures that rapidly progress to status epilepticus and are associated with a poor prognosis. Conventional therapies, including antiepileptic dru...

A Case of Schizophrenia with Diagnostic Challenges Between Non-convulsive Status Epilepticus and Malignant Catatonia: Therapeutic Implications based on the GABA-A Dysfunction Hypothesis.

Clinicians should recognize that catatonia and NCSE may coexist and overlap in GABA-A-related pathophysiology, and that early GABA-A-targeted interventions, including m-ECT, may be critical for recovery.

Early-Onset Progressive Encephalopathy With Brain Oedema and/or Leukoencephalopathy 1: Report of three siblings

Summary NAXE encephalopathy, also known as early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL-1), is a rare and often lethal autosomal recessive mitochondrial disorder. Typical presentation includes psychomotor regression, ataxia, respiratory insufficiency and seizures triggere...

Improved outcomes for patients with autonomic movement disorders originally evaluated for psychogenic non-epileptiform spells

Background Patients experiencing autonomic storms related to dysautonomia may present with abnormal movements, including convulsions, tremors, and myoclonus. Due to these nonspecific symptoms, they are often misdiagnosed with functional neurological disorders, including psychogenic non-epileptic spells (PNES), resultin...

Successful Treatment of Refractory Landau–Kleffner Syndrome with Memantine in a Child with GRIN2A Gain-of-Function Variant

A boy with normal early development who developed progressive aphasia and non-motor seizures around age three is described, with electroencephalographic findings consistent with spike-wave activation during slow sleep, while neuroimaging and metabolic evaluations were normal.

Nonconvulsive Status Epilepticus: An Underrecognized Neurologic Emergency