Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy

2013 ◽  
Vol 29 (1) ◽  
pp. 30-35 ◽  
Author(s):  
Ryoko Honda ◽  
Takanobu Kaido ◽  
Kenji Sugai ◽  
Akio Takahashi ◽  
Yuu Kaneko ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Developmental Outcome

PO-0834 Long-term Developmental Outcome Of Children Prenatally Exposed To Antiepileptic Drugs

2014 ◽  
Vol 99 (Suppl 2) ◽  
pp. A526.3-A526 ◽  
Author(s):  
N Gogatishvili ◽  
T Ediberidze ◽  
G Lomidze ◽  
N Tatishvili ◽  
S Kasradze
Keyword(s):  
Antiepileptic Drugs ◽  
Developmental Outcome ◽  
Prenatally Exposed

scholarly journals Adrenal function during long‐term ACTH therapy for patients with developmental and epileptic encephalopathy

2021 ◽  
Author(s):  
Yuki Ueda ◽  
Shuta Fujishige ◽  
Takeru Goto ◽  
Shuhei Kimura ◽  
Noriko Namatame ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Adrenal Function ◽  
Acth Therapy

Long-Term Developmental Outcome of Children of Women with Epilepsy, Unexposed or Exposed Prenatally to Antiepileptic Drugs

Drug Safety ◽  
2010 ◽  
Vol 33 (1) ◽  
pp. 73-79 ◽  
Author(s):  
Ryan Banach ◽  
Radinka Boskovic ◽  
Thomas Einarson ◽  
Gideon Koren
Keyword(s):  
Antiepileptic Drugs ◽  
Developmental Outcome

Dravet Syndrome: Early Diagnosis and Emerging Therapies

2019 ◽  
Vol 08 (02) ◽  
pp. 031-037
Author(s):  
Tyler J. Burr ◽  
Karen L. Skjei
Keyword(s):  
Status Epilepticus ◽  
Early Diagnosis ◽  
Seizure Control ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Dravet Syndrome ◽  
Long Term Outcomes ◽  
Treatment Algorithms ◽  
Emerging Therapies

AbstractDravet's syndrome (DS) or severe myoclonic epilepsy of infancy is a rare, genetic, and infantile-onset epileptic encephalopathy. DS presents with recurrent febrile seizures and/or febrile status epilepticus in developmentally normal infants, and subsequently evolves into a drug-resistant mixed-seizure disorder with developmental arrest or regression. As many defining clinical features of DS do not become evident until 3 to 4 years of age, diagnosis is often delayed. Early seizure control, particularly the prevention of status epilepticus in infancy, has been shown to correlate with better long-term outcomes. Thus, early diagnosis and seizure control is crucial. Several treatment algorithms have been published in recent years to guide antiepileptic drug selection and escalation. Last year, two agents, stiripentol and cannabidiol, were approved by the U.S. Food and Drug Administration specifically for use in DS, and a third has been submitted (fenfluramine). Additional therapies, including serotonin modulators lorcaserin and trazodone, verapamil, and several first-in-class medications, are currently in various phases of investigation.

Long-term developmental outcome in patients with West syndrome after epilepsy surgery

2012 ◽  
Vol 34 (9) ◽  
pp. 731-738 ◽  
Author(s):  
Yoshiko Iwatani ◽  
Kuriko Kagitani-Shimono ◽  
Koji Tominaga ◽  
Takeshi Okinaga ◽  
Ikuko Mohri ◽  
...  
Keyword(s):  
Epilepsy Surgery ◽  
West Syndrome ◽  
Developmental Outcome

Topical Review: Long-Term Developmental Outcome of Asphyxiated Term Neonates

2001 ◽  
Vol 16 (11) ◽  
pp. 781-792 ◽  
Author(s):  
Marie-Emmanuelle Dilenge ◽  
Annette Majnemer ◽  
Michael I. Shevell
Keyword(s):  
Developmental Outcome ◽  
Term Neonates ◽  
Topical Review

Long-Term Developmental Outcome of Infants with Iron Deficiency

1991 ◽  
Vol 325 (10) ◽  
pp. 687-694 ◽  
Author(s):  
Betsy Lozoff ◽  
Elias Jimenez ◽  
Abraham W. Wolf
Keyword(s):  
Iron Deficiency ◽  
Developmental Outcome

Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity

2021 ◽  
pp. 088307382110047
Author(s):  
Özlem Akgün-Doğan ◽  
Pelin Ozlem Simsek-Kiper ◽  
Ekim Taşkıran ◽  
Anna Schossig ◽  
Gülen Eda Utine ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Epileptic Encephalopathy ◽  
Clinical Findings ◽  
Global Developmental Delay ◽  
Molecular Characteristics ◽  
Long Term Follow Up ◽  
Main Components

Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay, and amelogenesis imperfecta are the main components of the syndrome. Mutations in ROGDI (MIM 226750) and SLC13A5 (MIM 615905) are responsible for Kohlschütter-Tönz syndrome. Here, we report on the clinical and molecular characteristics of 3 individuals from 2 families, all harboring the same homozygous novel deleterious variant in ROGD1, along with a long-term follow-up and review of the literature. Although the phenotypic features are almost consistent in Kohlschütter-Tönz syndrome, overlooking dental findings and diverse degrees of variability in clinical findings makes diagnosis challenging occasionally. Because there is a limited number of reported patients, identification of new patients and delineation of clinical and molecular findings will increase the awareness of clinicians and enable establishing genotype-phenotype correlations.

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