Review
Clinical Neurology
Jiangwei Ding, Lei Wang, Zhe Jin, Yuanyuan Qiang, Wenchao Li, Yangyang Wang, Changliang Zhu, Shucai Jiang, Lifei Xiao, Xiaoyan Hao, Xulei Hu, Xinxiao Li, Feng Wang, Tao Sun
Summary: This study aimed to identify genes other than SCN1A that may cause DS or DS-like phenotypes. A comprehensive search of relevant studies was conducted, and a total of 29 studies met the inclusion criteria. The results suggest that various genes including PCDH19, SCN2A, SCN8A, SCN1B, GABRA1, GABRB3, GABRG2, KCNA2, CHD2, CPLX1, HCN1A, and STXBP1 may be involved in DS or DS-like phenotypes.
FRONTIERS IN NEUROLOGY
(2022)
Article
Pharmacology & Pharmacy
Shih-Yin Ho, Li Lin, I-Chun Chen, Che-Wen Tsai, Fang-Chia Chang, Horng-Huei Liou
Summary: The study evaluated the antiepileptic effect of the AMPA receptor antagonist perampanel (PER) on a mouse model of Dravet syndrome, showing significant therapeutic potential in reducing spontaneous recurrent seizures and improving hyperthermia-induced seizures. PER also demonstrated a synergistic effect in combination with stiripentol or valproic acid for attenuating heat-induced seizures, highlighting its potential as a treatment option for Dravet syndrome.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Medicine, General & Internal
Justyna Paprocka, Anita Lewandowska, Piotr Zielinski, Bartlomiej Kurczab, Ewa Emich-Widera, Tomasz Mazurczak
Summary: This paper aims to study the prevalence of Dravet Syndrome (DS) in the Polish population and identify factors other than seizures that impact the quality of life in patients. The survey conducted among caregivers of DS patients revealed that before diagnosis, patients experienced prolonged status epilepticus and adverse effects from treatment, affecting their quality of life.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Feng Gu, Isabel Parada, Tao Yang, Frank M. Longo, David A. Prince
Summary: Dravet syndrome is a severe childhood epilepsy caused by mutations in the Scn1a gene. Early treatment with a partial BDNF TrkB receptor agonist can improve PV interneuron function, reduce seizures, and increase survival rates.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Clinical Neurology
Alejandra Vasquez, Elaine C. Wirrell, Paul E. Youssef
Summary: Stiripentol is a structurally unique molecule that has anticonvulsant and neuroprotective properties. It enhances GABAergic neurotransmission and inhibits hepatic isoenzymes involved in the metabolism of other antiseizure medications, making it a promising therapy for Dravet Syndrome.
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2023)
Article
Behavioral Sciences
Ellie Chilcott, Juan Antinao Diaz, Cori Bertram, Margherita Berti, Rajvinder Karda
Summary: Dravet Syndrome is a genetic epileptic syndrome characterized by severe seizures and cognitive impairments. Genetic therapy is considered a promising alternative for treatment, including gene supplementation, CRISPR-mediated transcriptional activation, and the use of antisense oligonucleotides.
EPILEPSY & BEHAVIOR
(2022)
Article
Clinical Neurology
Mustafa Q. Hameed, Benjamin Hui, Rui Lin, Paul C. MacMullin, Andres Pascual-Leone, Sheryl Anne D. Vermudez, Alexander Rotenberg
Summary: Dravet syndrome is a refractory epilepsy caused by SCN1A haploinsufficiency. This study demonstrates reduced expression of GLT-1 in DS mouse models and wild type mice with Scn1a haploinsufficiency, suggesting a role of GLT-1 in DS seizures. As GLT-1 can be upregulated by FDA-approved medications, targeting GLT-1 may be a novel avenue for DS treatment.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Clinical Neurology
Gewalin Aungaroon, Amar Mehta, Paul S. Horn, David N. Franz
Summary: This study evaluates the efficacy and tolerability of stiripentol (STP) in patients with tuberous sclerosis complex (TSC) and drug-resistant epilepsy (DRE). The results show that approximately 46% of the patients had favorable outcomes, and younger age, early STP treatment, higher doses, and higher baseline seizure frequency were significantly associated with favorable outcomes.
PEDIATRIC NEUROLOGY
(2023)
Article
Neurosciences
Lyndsey L. Anderson, Peter T. Doohan, Nicole A. Hawkins, Dilara Bahceci, Sumanta Garai, Ganesh A. Thakur, Jennifer A. Kearney, Jonathon C. Arnold
Summary: Deficiency in the endocannabinoid system may contribute to seizure phenotypes in Dravet syndrome, and enhancing endocannabinoid tone could be anticonvulsant.
Article
Clinical Neurology
Arunan Selvarajah, Carolina Gorodetsky, Paula Marques, Quratulain Zulfiqar Ali, Anne T. Berg, Alfonso Fasano, Danielle M. Andrade
Summary: Limited information is available about Dravet syndrome (DS) in adults compared to the pediatric population. This study aimed to examine gait and motor manifestations in adults with DS. The findings revealed that motor symptoms and gait worsen progressively as patients with DS age.
Article
Clinical Neurology
Catherine Chiron, Nicole Chemaly, Laurent Chancharme, Rima Nabbout
Summary: The study aims to evaluate the safety and efficacy of stiripentol in patients with Dravet syndrome initiated before the age of 2. The results show that stiripentol significantly reduces the frequency of long-lasting and status epilepticus seizures, decreases emergency hospitalizations, and mortality rate, demonstrating its beneficial effects in the treatment of infants with Dravet syndrome.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Pharmacology & Pharmacy
Sara Meirinho, Marcio Rodrigues, Adriana O. Santos, Amilcar Falcao, Gilberto Alves
Summary: Stiripentol is a new-generation antiepileptic drug that can only be administered orally. However, it is unstable in acidic environments and dissolves slowly and incompletely in the gastrointestinal tract. This study developed intranasal microemulsions to improve the delivery of Stiripentol. Compared to oral administration, intranasal administration significantly increased the plasma and brain concentrations of Stiripentol, suggesting that it could be a promising alternative for clinical testing.
Review
Medicine, General & Internal
Chao Gao, Mikolaj Pielas, Fuyong Jiao, Daoqi Mei, Xiaona Wang, Katarzyna Kotulska, Sergiusz Jozwiak
Summary: Dravet syndrome is a developmental epileptic encephalopathy characterized by drug-resistant seizures and other clinical features. The current consensus for seizure management includes a combination of conventional and recently approved drugs. However, the prognosis for patients with DS remains unfavorable, and ongoing clinical research is focused on finding more effective treatments. Serotonergic agents and gene therapy show promising results in clinical trials and may offer hope for better outcomes in the future.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Neurosciences
C. Rivadulla, J. L. Pardo-Vazquez, C. de Labra, J. Aguilar, E. Suarez, C. Paz, M. Alvarez-Doladog, J. Cudeiroa
Summary: In this study, transcranial static magnetic stimulation (tSMS) was used to effectively reduce the number and intensity of seizures in a mouse model of Dravet syndrome. Numerical simulation was also performed to estimate the magnetic field intensity reached in the cerebral cortex, providing insights for designing stimulation strategies in Dravet syndrome patients.
EXPERIMENTAL NEUROLOGY
(2023)
Article
Neurosciences
Nina Miljanovic, Stefanie M. Hauck, R. Maarten van Dijk, Valentina Di Liberto, Ali Rezaei, Heidrun Potschka
Summary: The study utilized a mouse model of Dravet syndrome for proteomic analysis, revealing complex molecular alterations in the hippocampus during disease progression, involving neurotransmitter dynamics, ion channel function, and more. These findings provide valuable insights for the future development of therapeutic approaches.
NEUROBIOLOGY OF DISEASE
(2021)
Article
Clinical Neurology
Tugce Aksu Uzunhan, Nafiye Emel Cakar, Serhat Seyhan, Kursad Aydin
BRAIN & DEVELOPMENT
(2020)
Article
Clinical Neurology
Tugce Aksu Uzunhan, Bulent Uyanik
CLINICAL NEUROLOGY AND NEUROSURGERY
(2020)
Article
Clinical Neurology
Tugce Aksu Uzunhan, Hulya Maras Genc, Busra Kutlubay, Sevinc Kalin, Gonca Bektas, Ozge Yapici, Saliha Ciraci, Hatice Gulhan Sozen, Esra Sevketoglu, Figen Palabiyik, Zeynep Gor, Nafiye Emel Cakar, Bulent Kara
Summary: This study included 41 pediatric patients with CLOCCs, mainly infection-associated lesions including viral infections and metabolic disorders. Patients with infection-associated lesions had a better prognosis, although sequelae could still occur in severe cases.
BRAIN & DEVELOPMENT
(2021)
Letter
Clinical Neurology
Tugce Aksu Uzunhan, Bulent Uyanik, Melike Ersoy, Yelda Turkmenoglu
ACTA NEUROLOGICA BELGICA
(2022)
Article
Clinical Neurology
Akif Ayaz, Tugce Aksu Uzunhan, Kursad Aydin
Summary: This study identified variants in the SYNRG gene associated with the complex phenotype of hereditary spastic paraplegia. The results support the notion that interaction between the SYNRG gene and AP-1 from the AP complex family may contribute to the disease. This finding is important for patients with hereditary spastic paraplegia whose etiology has not been clarified.
BRAIN & DEVELOPMENT
(2022)
Article
Pediatrics
Tugce Aksu Uzunhan, Alper Kacar, Ebru Misirli Ozdemir, Ozge Yapici
Summary: The study revealed that biochemical abnormalities play a role in the etiology of afebrile seizures, and patients with abnormal findings on cranial CT scans tend to have longer seizures. Patients with focal seizures tend to have a more complicated course, with higher recurrence rates, more intensive care unit hospitalizations, and a greater need for post-discharge antiepileptic drugs.
PEDIATRICS INTERNATIONAL
(2022)
Article
Clinical Neurology
Tugce Aksu Uzunhan, Akif Ayaz
Summary: NRXNs play critical roles in synaptic connections, and deletions involving NRXN1 gene can lead to various neurodevelopmental disorders. This study describes clinical and genetic findings of two siblings with homozygous exonic NRXN1 deletion, showing intrafamilial phenotypic variation.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2022)
Article
Clinical Neurology
Tugce Aksu Uzunhan, Biray Erturk, Kuersad Aydin, Akif Ayaz, Umut Altunoglu, Murat Hakki Yarar, Alper Gezdirici, Dilara Fuesun Icagasioglu, Ezgi Gokpinar Ili, Buelent Uyanik, Metin Eser, Yasar Bekir Kutbay, Yasemin Topcu, Betuel Kilic, Gonca Bektas, Ayfer Arduc Akcay, Baris Ekici, Amet Chousein, Sahin Avci, Atil Yuksel, Huelya Kayserili
Summary: In this study, a group of Joubert syndrome patients were clinically and genetically characterized, with emphasis on organ involvement. Rare gene variants were identified in these patients, and multi-organ involvement was observed.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Clinical Neurology
Cansu Altuntas, Tugce Aksu Uzunhan, Biray Erturk, Mey Talip Petmezci, Nafiye Emel Cakar, Bilge Noyan, Ali Ihsan Dokucu, Hasan Onal
Summary: MNGIE is a well-known mitochondrial depletion syndrome linked to POLG1 mutations. We present a case of a female patient with early onset disease and leukoencephalopathy compatible with classic MNGIE, who was found to have homozygous POLG1 mutation compatible with MNGIE-like syndrome, mitochondrial depletion syndrome type 4b.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2023)
Article
Clinical Neurology
Cagatay Gunay, Duygu Aykol, Ozlem Ozsoy, Ece Sonmezler, Yaren Sena Hanci, Bulent Kara, Deniz Akkoyunlu Sunnetci, Naci Cine, Adnan Deniz, Tolgahan Ozer, Cemile Busra Olculu, Ozlem Yilmaz, Seda Kanmaz, Sanem Yilmaz, Hasan Tekgul, Nihal Yildiz, Elif Acar Arslan, Ali Cansu, Nihal Olgac Dundar, Fatma Kusgoz, Elif Didinmez, Pinar Gencpinar, Tugce Aksu Uzunhan, Biray Erturk, Alper Gezdirici, Akif Ayaz, Akgun Olmez, Muege Ayanoglu, Ayse Tosun, Yasemin Topcu, Betuel Kilic, Kursad Aydin, Ezgi Caglar, Ozlem Ersoy Kosvali, Cetin Okuyaz, Seyda Besen, Leman Tekin Orgun, Ilknur Erol, Deniz Yuksel, Abdullah Sezer, Ergin Atasoy, Ulkuhan Toprak, Serdal Gungor, Bilge Ozgor, Meral Karadag, Cengiz Dilber, Bahtiyar Sahinoglu, Emek Uyur Yalcin, Niluefer Eldes Hacifazlioglu, Ahmet Yaramis, Pinar Edem, Hande Gezici Tekin, Unsal Yilmaz, Aycan Unalp, Sevim Turay, Didem Bicer, Gulen Gul Mert, Ipek Dokurel Cetin, Serkan Kirik, Guelten Ozturk, Yasemin Karal, Aslihan Sanri, Ayse Aksoy, Muzaffer Polat, Nezir Ozgun, Didem Soydemir, Gamze Sarikaya Uzan, Dondu Ulker Ustebay, Aysen Gok, Mehmet Can Yesilmen, Uluc Yis, Gokhan Karakulah, Ahmet Bursali, Yavuz Oktay, Semra Hiz Kurul
Summary: This study aimed to identify shared pathways and processes related to intellectual disability (ID) using enrichment analysis. By analyzing the causative genes of 720 ID patients, 18 shared pathways and multiple overrepresented DO and GO terms were identified. Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways were found to be potential research areas for new targeted therapies in ID patients.
Article
Medicine, General & Internal
Hilal Susam Sen, Tugce Aksu Uzunhan
Summary: This study evaluated the clinical characteristics, pathophysiologies, and treatments of neuropathic pain in pediatric cancer patients. Neuropathic pain was found to be associated with the cancer itself, chemotherapy, surgical treatment, and disseminated disease. Gabapentin and opioids were the most commonly used treatment options.
NORTHERN CLINICS OF ISTANBUL
(2022)
Article
Medicine, General & Internal
Tugce Aksu Uzunhan, Ahmet Irdem
MEDICAL JOURNAL OF BAKIRKOY
(2020)
Article
Behavioral Sciences
Gurkan Tarcin, Tugce Aksu Uzunhan, Alper Kacar, Mine Kucur, Sema Saltik
EPILEPSY & BEHAVIOR
(2020)
Article
Medicine, General & Internal
Tugce Aksu Uzunhan, Biray Erturk, Pelin Ozyavuz Cubuk, Bulent Uyanik, Akif Ayaz, Onur Akan, Taha Resid Ozdemir
IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
(2020)
Article
Medicine, General & Internal
Tugce Aksu Uzunhan, Zeynep Gor
MEDICAL BULLETIN OF SISLI ETFAL HOSPITAL
(2020)