Mitochondria are central organelles in metabolism, signal transduction, and programmed
cell death. To meet their diverse functional demands, their shape is strictly regulated by a�…

Epileptic encephalopathies are conditions in which neurologic deterioration is attributable
entirely or partly to epileptic activity. It can be due to very frequent or severe seizures and/or�…

Wolf–Hirschhorn syndrome (WHS) is a well‐known multiple congenital anomalies/mental
retardation syndrome, firstly described in 1961 by Cooper and Hirschhorn. Its frequency is�…

To define the spectrum of epilepsy in Wolf–Hirschhorn syndrome (WHS) better, we studied
87 patients (54 females, 33 males; median age 5.6 years; age range 1–25.6 years) with�…

Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome
involving variable size deletions of the 4p16. 3 region. Seizures are frequently, but not�…

Purpose: Previous reports have summarized the seizures types occurring in 1p36 deletion
syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8�…

The authors report the study of a 30‐month‐old girl with refractory myoclonic epilepsy
associated with mental retardation, growth delay, peculiar facial appearance, and minor�…

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder caused by terminal
deletion of the short arm of chromosome 4. The clinical picture includes growth retardation�…

Purpose: We investigated the evolution of epilepsy, seizure types, and effective drugs in
Wolf‐Hirschhorn syndrome, which is a malformation syndrome often with refractory seizures�…

Mitochondria are fundamental for life and require balanced ion exchange to maintain proper
functioning. The mitochondrial cation exchanger LETM1 sparks interest because of its�…