Journal of Pediatric Epilepsy
Clinical Characteristics and Prognosis of Juvenile Myoclonic Epilepsy: Single-Center Retrospective Study
2023-03-31
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0043-1764390
Juvenile myoclonic epilepsy (JME) is one of the most common idiopathic (genetic) generalized epilepsy syndromes. It occurs in healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonic-clonic seizures (GTCs), and absence seizures. The study's primary aim was to determine the demographic and clinical characteristics, family history of seizure, electroencephalogram findings, treatments, and short-term prognosis of patients diagnosed with JME. Patients diagnosed with JME at the Pediatric Neurology Department of Sağlık Bilimleri University Adana Numune Training and Research Hospitals were enrolled. Thirteen (30%) of 44 patients were male, whereas 31 (70%) were female, with a mean age at diagnosis of 14 ± 1.3 years. In total, 21 patients (48%) had a family history of epilepsy, and 14 patients (32%) had JME in their families. Those having a family history of JME seizures were identified at a younger age. Thirty (68%) patients presented with GTCs, while 14 (32%) presented with myoclonic seizures at the time of diagnosis. In the history, 98% of patients had myoclonus and one patient had an absence seizure. Patients with the first seizure type GTCs were diagnosed later, while patients with myoclonus were diagnosed earlier (p < 0,05). The most precipitating factors for seizures were sleep deprivation and stress. Thirty-eight (86%) of the EEGs recorded during the initial admission was abnormal. Valproic acid was administered to 32 patients (73%), while levetiracetam was administered to 12 patients (27%) as the initial treatment. Forty-one (93%) of the patients exhibited a complete response to the initial medication therapy, while forty (91%) of the patients received monotherapy, and only four (9%) received polytherapy. JME may be well-controlled epilepsy with early diagnosis and appropriate treatment. A family history of JME is also common among patients with JME. Patients with the myoclonus as a first seizure type are diagnosed earlier than GTCs because of family awareness. A family history of JME may facilitate the diagnosis of new cases in the family.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Çelik, Tamer
Use of Bibliotherapy in Patients with Epilepsy
2023-03-28
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0043-1767735
Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Çaksen, Hüseyin
Relationship Between Multiple Sclerosis and Spiritual Distress
2023-03-10
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0043-1764149
Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Çaksen, Hüseyin
SYNGAP1 Encephalopathy Presenting with a Phenotype of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome)
2023-03-03
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0043-1762908
Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Baajour, Wadih
Molecular Neurosurgery: Introduction to Gene Therapy and Clinical Applications
2023-01-30
Journal of Pediatric Epilepsy 2023; 12: 050-062
DOI: 10.1055/s-0042-1760292
To date, more than 100 clinical trials have used sequence-based therapies to address diseases of the pediatric central nervous system. The first targeted pathologies share common features: the diseases are severe; they are due (mostly) to single variants; the variants are well characterized within the genome; and the interventions are technically feasible. Interventions range from intramuscular and intravenous injection to intrathecal and intraparenchymal infusions. Whether the therapeutic sequence consists of RNA or DNA, and whether the sequence is delivered via simple oligonucleotide, nanoparticle, or viral vector depends on the disease and the involved cell type(s) of the nervous system. While only one active trial targets an epilepsy disorder—Dravet syndrome—experiences with aromatic L-amino acid decarboxylase deficiency, spinal muscular atrophy, and others have taught us several lessons that will undoubtedly apply to the future of gene therapy for epilepsies. Epilepsies, with their diverse underlying mechanisms, will have unique aspects that may influence gene therapy strategies, such as targeting the epileptic zone or nodes in affected circuits, or alternatively finding ways to target nearly every neuron in the brain. This article focuses on the current state of gene therapy and includes its history and premise, the strategy and delivery vehicles most commonly used, and details viral vectors, current trials, and considerations for the future of pediatric intracranial gene therapy.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Addison, Angela P.
Contributing Reviewers in 2022
2023-01-30
Journal of Pediatric Epilepsy 2023; 12: i-ii
DOI: 10.1055/s-0043-1761401
Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Addison, Angela P.
Guanidinoacetate Methyltransferase Deficiency, a Treatable Neurodevelopmental Disorder
2023-01-13
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0042-1760291
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine synthesis that results in intellectual disability, epilepsy, expressive language delay, and dystonia. We report data from two siblings with an uncommon GAMT deficiency phenotype and their clinical, biochemical, imaging, and treatment findings. The older sibling had intellectual disability, epilepsy, and generalized dystonia. The younger sibling had intellectual disability and generalized dystonia. After treatment with creatine, verbal fluency improved, as well as dystonia and aggression. This study confirms that in patients with unexplained intellectual disability, epilepsy, and/or movement disorders, GAMT deficiency should be considered. GAMT-associated cerebral creatine deficiency syndrome is a potentially treatable condition and can be identified by elevated levels of guanidinoacetate in plasma or urine or by a significantly decreased creatine peak on magnetic resonance spectroscopy.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Aghamollaii, Vajiheh
Neonatal Hypoglycemia: Oral Dextrose Gel and Tahneek Practice
2022-12-26
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0042-1760192
In this article, we reviewed the use of oral dextrose gel in neonatal hypoglycemia (NH) and examined tahneek practices from past to present to draw attention to the importance of tahneek for newborn infants. NH, a common metabolic problem, is one of the most common causes of neonatal seizures. A universal approach to diagnosis and management of NH is still lacking. Although oral dextrose gel is the recommended first-line treatment for the management of NH, it may cause a hyperinsulinemic response. Date is an essential high-energy food with a low glycemic index. Tahneek, rubbing of chewed date on the soft palate of the neonate immediately after delivery, has been performed for over 1,400 years because it is one of the Prophet Muhammad's (Sallallahu Alayhi Wa Sallam) sunnahs. It has been noted that tahneek may be alternative to dextrose gel for prophylaxis and treatment of NH; however, no clinical study has been published about this subject according to the best of our knowledge. We think that tahneek practice is more effective, and safer option than oral dextrose gel because of low glycemic index of date. We also believe that tahneek practice has many benefits for newborn infants, because dates have antioxidant, antimicrobial, and anti-inflammatory properties. Randomized controlled studies, including large series, should be conducted about effects of tahneek practice on newborns.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Çaksen, Hüseyin
A Retrospective Study of the Profile and Outcome of Children with Dravet Syndrome in a Tertiary Care Hospital of Southern India
2022-11-21
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0042-1758660
Objective Dravet syndrome (DS) is an epileptic syndrome that shares similarities with febrile seizures (FS), especially before 1 year of age, making it challenging to differentiate the two. We describe the profile of DS, with emphasis on the first year of life that can aid in early diagnosis.
Methods The clinical, investigative, treatment, and outcome profiles of DS patients presenting to the outpatient department (OPD) between October 2016 and December 2021 in a single tertiary care center in South India were analyzed.
Results Seventeen children were studied, with median age at presentation of 30 (interquartile range [IQR] 10, 47) months. The median age at seizure onset was 5 (IQR 3, 6) months. First seizure semiology were generalized tonic-clonic (GTCS) (35.3%), focal (52.9%), and myoclonic (11.8%). Fever preceding first seizure was seen in 76.5%. Status epilepticus (SE; ≥30 minutes) and prolonged seizures (>10 minutes) were seen in 41.2% each, and >5 seizures were seen in 82.4% in the first year of life. The most frequent subsequent seizure types were focal seizures (76.5%) and GTCS (76.5%). Other seizure triggers included vaccination (52.9%), light (17.6%), and Hot-bath (5.8%). Delayed developmental milestones for age were found in 52.9% at diagnosis. Magnetic resonance imaging (MRI) brain and electroencephalogram were normal in 76.4% each. Pathogenic/likely pathogenic variants in SCN1A gene were seen in 64.7%. Average of 3.9 anti-seizure medications were used. After optimization of treatment seizure frequency reduced in 40% and 4/15 (26.6%) had SE.
Conclusion In addition to characteristic clinical profile of DS we observed atypical presentations: an earlier age of seizure onset and afebrile seizure at onset. Delayed diagnosis was noted. Seizure control improved and SE reduced on optimal treatment.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Banerjee, Bidisha
Anti–Gamma Aminobutyric Acid B Autoimmune Encephalitis in an Indian Child with Early-Onset Seizures, Neurodegeneration, and Brain Calcification due to NRROS Variation: The First Reported Case Worldwide
2022-11-09
Journal of Pediatric Epilepsy
DOI: 10.1055/s-0042-1758147
A 1.5-year-old boy presented to us with a history of normal growth and developmental parameters until 6 months of age. However, at 7 months of age, he developed multiple types of seizures consisting initially of complex febrile seizures, followed by afebrile seizures. Multifocal clonic, generalized tonic–clonic, and myoclonic (multifocal and generalized) were the evolving seizure types. He had truncal hypotonia, but his appendicular hypotonia progressed to hypertonia over the next few months and further to decorticate posturing. Brain magnetic resonance imaging (MRI) showed generalized atrophy, predominantly frontotemporal, without any focal signal abnormalities or contrast enhancement. Computed tomography (CT) showed speckled calcification in subcortical white matter. Electroencephalogram showed bilateral frontotemporal epileptiform discharges with secondary generalization. His cerebrospinal fluid had normal cytology and biochemical results but was positive for anti–gamma aminobutyric acid B antibodies. Whole exome sequencing showed likely pathogenic, novel autosomal recessive homozygous variation of NRROS gene on chromosome 3 [c.1487G > A (p.Trp496Ter)], which impairs the functioning of anti-inflammatory cytokine transforming growth factor beta, resulting in a proinflammatory state within the central nervous system and thereby promoting autoimmune encephalitis. Parental Sanger sequencing validated the variation in both his parents. He was treated with both pulse methylprednisolone (30 mg/kg/day for 5 days) and intravenous immunoglobulin (2 g/kg), followed by slowly tapering of oral prednisolone and monthly intravenous immunoglobulin infusion (1 g/kg). There was significant reduction in seizure frequency and disappearance of epileptiform discharges from the electroencephalogram. However, the motor and cognitive improvement did not occur, and he had microcephaly and growth failure at the last follow-up. This is the 11th case report of neurodegeneration associated with NRROS gene variations, but the first report of autoimmune encephalitis being triggered by the variation in a child.
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Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany
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Fonte: Journal of Pediatric Epilepsy, Kapat, Aritra