Results 151 to 160 of about 9,861 (247)

Factors influencing efficacy and relapse of adrenocorticotropic hormone in infantile epileptic spasms syndrome

Epilepsy & Behavior
Infantile epileptic spasms syndrome (IESS) is a severe epileptic condition characterized by persistent uncontrolled seizures, with some children experiencing recurrent seizures despite multiple pharmacological therapies. The prognostic risk factorsassociated with IESS remain unclear. This study aimed to evaluate the factors influencing the efficacy and
Dandan Mao, Sixiu Li, Yang Xu, Hui Chen, Ping Liu, Wenguang Hu   +5 more
openaire   +2 more sources

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction

Epilepsia Open, Volume 11, Issue 1, Page 190-199, February 2026.
Abstract Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity. This study examined the relationship of KCNQ2 variant dysfunction with the neurodevelopmental phenotype of individuals with KCNQ2‐DEE. Methods A parent‐reported survey gathered
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
wiley   +1 more source

The hairy elbows syndrome: clinical and neuroradiological findings. [PDF]

, 2008
The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces.
CORSELLO, Giovanni, DI PACE, Maria Rita, DIDATO, Maria Angela, FONTANA, Antonina, MANGANO, Salvatore, NARDELLO, Rosaria, TRIPI, Gabriele   +6 more
core  

Prevalence and incidence of infantile epileptic spasms syndrome in India: A systematic review and meta‐analysis

Epilepsia Open, Volume 11, Issue 1, Page 211-219, February 2026.
Abstract Objectives Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy of infantile onset. While epidemiological data from Western countries and global estimates are available, consolidated evidence on the burden of IESS in India remains limited.
Akanksha Singh, Parth Lal, Mohammed Safeer V.S., Atishay Jain, Priyanka Madaan, Jitendra Kumar Sahu, Dipika Bansal   +6 more
wiley   +1 more source

Infantile Epileptic Spasms Syndrome Due to Neonatal Hypoglycemic Brain Injury: A Retrospective Audit

Indian Pediatrics
In this retrospective audit of 56 children with infantile epileptic spasms syndrome (IESS), neonatal hypoglycemic brain injury (NHBI) was the leading etiology (35.71%), followed by hypoxic ischemic encephalopathy (HIE) (25%). Other causes accounted for 30.3% cases.
Shreya, Gupta, Gouri Rao, Passi
openaire   +2 more sources

Clock gene dysregulation in epilepsy: A systematic review

Epilepsia Open, Volume 11, Issue 1, Page 53-77, February 2026.
Abstract Objective Epileptic seizures show a rhythmic pattern, being more frequent at particular times of the day (e.g., only occurring during sleep), suggesting a role of the circadian rhythm. Clock genes regulate the circadian rhythm and might be involved in the pathophysiology of epilepsy.
Guilherme Fernandes‐Campos, Arjune Sen, Francesca Panin, Krithika Sundararaman   +3 more
wiley   +1 more source

Cellular properties of convulsant-treated rat neo-cortical neurons during postnatal development [PDF]

, 1989
Hablitz, John H., Kellaway, Peter, Noebels, Jeffrey L., Sutor, Bernd   +3 more
core   +1 more source

Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome

Epilepsy & Behavior Reports
Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3.
Masataka Fukuoka, Ichiro Kuki, Yuka Hattori, Hitomi Tsuji, Asako Horino, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Noritsugu Kunihiro, Takehiro Uda   +9 more
doaj   +1 more source

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, Volume 11, Issue 1, Page 280-290, February 2026.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Clinical features and long-term follow-up of patients with West syndrome: 5-year developmental outcomes

Trends in Pediatrics
Objectives: West syndrome (WS) is an early childhood epileptic encephalopathy characterized by spasms, typically occurring within the first year of life.
Yiğithan Güzin, Serdar Pekuz, Pakize Karaoğlu, İpek Burcu Parlak İbiş, Hatice Hilal Kırkgöz, Merve Yavuz, Aycan Ünalp, Ünsal Yılmaz   +7 more
doaj   +1 more source