The Assessment of the Efficacy, Safety, and Challenges of Ketogenic Diet Therapy in Children with Epilepsy: The First Experience of a Single Center.

: Ketogenic diet therapy (KDT) has been used as a non-pharmacological treatment for childhood refractory epilepsy. Its efficacy and safety have been described in numerous studies and reviews. However, there have been fewer studies evaluating the challenges experienced by patients and their family members when starting KDT.

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Objective: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy.

Methods: We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG.

Characteristics of the Manifestation of Multiple Sclerosis in Children in Lithuania.

: Multiple sclerosis (MS) starts quite rarely in childhood, comprising just 3-10% of all diagnosed cases of MS population. The age of onset of the disease may be related to the initial phenotype and the prognosis of MS. The aim of the study is to assess the characteristics of the manifestation of MS in children.

Lessons learned from 40 novel PIGA patients and a review of the literature.

Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations.

Methods: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Background: Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding molecular pathway. An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital anomalies hypotonia seizures syndrome (MCAHS). However, the increasing number of individuals with a GPIBD shows that hyperphosphatasia is a variable feature that is not ideal for a clinical classification.

Different MRI-defined tuber types in tuberous sclerosis complex: Quantitative evaluation and association with disease manifestations.

Background: Tuberous sclerosis complex (TSC) is a rare genetic disorder with multisystem involvement. A magnetic-resonance (MRI) based classification of tubers into types A, B and C has been proposed. However, the relationship between different tuber types and their quantitative characteristics, also the non-neurological manifestations of TSC remains unknown.

EEG activation by neuropsychological tasks in idiopathic generalized epilepsy of adolescence.

The Aim Of The Study: To evaluate the effects of neuropsychological activation (NPA) tasks on epileptiform discharges in adolescents with idiopathic generalized epilepsy (IGE) and their possible relationship to clinical epilepsy-related factors, also to compare the effects of the NPA to the habitual methods of electroencephalographic (EEG) activation.

Methods/subjects: Fifty-nine patients with IGE aged 14-17 years underwent baseline video-EEG recording with habitual activation procedures followed by NPA tasks, and sleep EEG after sleep deprivation on the next day.

Results: At least one task of NPA showed provocative effect in 18.

Association of language dysfunction and age of onset of benign epilepsy with centrotemporal spikes in children.

Background: Language dysfunction in children with benign epilepsy with centrotemporal spikes (BECTS) has been well recognized but data regarding its risk factors are heterogenous.

Aims: To assess language function in children with BECTS and its association with the age of epilepsy onset.

Methods: We assessed language function in 61 children with BECTS and 35 age and sex-matched controls.

Executive functions in adolescents with idiopathic generalized epilepsy.

Unlabelled: Disorders of executive functioning have recently been reported in patients with juvenile myoclonic epilepsy (JME); however, data on other syndromes of generalized idiopathic epilepsy (IGE) other than JME, especially in adolescence, are scarce. The aim of this study was to explore specific executive functions in a group of adolescents with IGE of short duration and to evaluate the possible factors that might influence these functions.

Material And Methods: Neuropsychological investigation of executive functions (the Verbal Fluency Test, the Five-Point Test, the Trail-Making Test, and the Stroop test) was performed in 59 patients aged 14-17 years and meeting the diagnostic criteria for IGE, and in the group of 59 age-matched controls without any history of epilepsy.

Presurgical evaluation of epilepsy patients.

Epilepsy surgery has been established as an effective treatment in pharmacoresistant focal epilepsies. Most candidates for epilepsy surgery are patients with partial epilepsy syndromes refractory to medical treatment. The curative surgery procedure is resection of the epileptogenic zone; therefore, precise detection of the site responsible for seizure generation is necessary.

[Psychosocial adjustment difficulties among hospitalized adolescents with neurological and physical disorders].

Psychosocial adjustment of adolescents with health disorders has been studied extensively. However, it is unclear whether different health disorders have specific impact on adjustment, or disorder in general relates to the development of adjustment difficulties as a factor limiting adolescent's physical and social activity. This study was aimed to identify peculiarities of psychosocial adjustment difficulties among hospitalized adolescents with neurological and physical disorders and secondary school students.

The validity of post-concussion syndrome in children: a controlled historical cohort study.

The aim of this controlled historical cohort study was to assess the validity of post-concussion syndrome in children. We identified 301 children aged 4-15 years who had sustained an isolated brain concussion, and another group of 301 children who sustained any other mild body injury excluding the head. Parents from both groups filled in standardized questionnaires containing questions about the health condition of the children: headache, neck pain, dizziness, malaise, fatigability, exercise or noise intolerance, irritability, weepiness, sadness, anxiety, nocturnal enuresis, tics, sleep disorders, memory or learning difficulties, hyperactivity, seizures, attention disorder, buzzing in the ears, subjective parental concerns about the child's health condition, and parental concerns about their child having a brain disorder.

The prevalence, course and clinical features of post-concussion syndrome in children.

Objective: To investigate the clinical features and the prevalence of symptoms of post-concussion syndrome in children with mild traumatic brain injury, and to evaluate their changes over time.

Material And Methods: The research involved two groups of 4-16 year-old children: the case group of 301 children who had experienced a single mild traumatic brain injury, and the control group of 301 children who had sustained any other mild body injury without head trauma. Groups were matched according to gender, age, and the date of admission to hospital.

Prevalence, clinical features and accompanying signs of post-traumatic headache in children.

Unlabelled: The aim of the study was to investigate the prevalence and clinical features of headaches and their accompanying signs in children with mild traumatic brain injury, as well as to evaluate their changes over time.

Material And Methods: The research involved two groups of 4-16 year-old children: the case group of 301 children who had experienced a single mild traumatic brain injury, and the control group--301 children who had suffered from any other mild body injury without head trauma. Groups were matched according to gender, age, date of admission to hospital.

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

We describe five boys from different families with an atypically severe form of Pelizaeus-Merzbacher disease (PMD) who have three, and in one case, five copies of the proteolipid protein (PLP1) gene. This is the first report of more than two copies of PLP1 in PMD patients and clearly demonstrates that severe clinical symptoms are associated with increased PLP1 gene dosage. Previously, duplications, deletions and mutations of the PLP1 gene were reported to give rise to this X-linked disorder.