Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group.

A stepwise increase in the utilization of ketogenic dietary therapies for drug-resistant epilepsy has been observed in Italy in the last decade, although it is still considered often underused in many centers when compared to other countries. The Dietary Therapy Study Group of the Italian League against Epilepsy proposes practical recommendations to improve shared knowledge and facilitate the application of ketogenic dietary therapies, optimizing its efficacy and tolerability. The experts involved (11 child neuropsychiatrists, two adult neurologists, one psychologist, one pharmacologist, one pediatric endocrinologist, one representative of patients' associations, and three dietitians and clinical nutritionists) responded to a survey on current clinical practice issues and were asked to discuss controversial topics related to supplementation, long-term maintenance, transition, and a multidisciplinary approach to ketogenic dietary therapies.

Hemispheric surgery for severe epilepsy in early childhood: a case series.

Hemispheric surgery is an effective and cost-effective option for hemispheric epilepsy. Data specifically focusing on very early infancy are scant. In our study, we report the results of hemispheric surgery in children under three years of age, along with clinical, neuroradiological and EEG features, from two Italian epilepsy surgery centres.

Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox-Gastaut Syndrome.

Purified cannabidiol (CBD) was administered to highly refractory patients with Dravet (DS) or Lennox-Gastaut (LGS) syndromes in an ongoing expanded access program (EAP). Herein, we report interim results on CBD safety and seizure outcomes in patients treated for a 12-month period. Thirty centers were enrolled from December 2018 to December 2019 within the open-label prospective EAP up to a maximum of 25 mg/kg per day.

Cannabidiol in Pharmacoresistant Epilepsy: Clinical Pharmacokinetic Data From an Expanded Access Program.

Data on the clinical pharmacokinetics of cannabidiol (CBD) are scanty. We explored the effect of demographic and clinical variables on plasma concentrations of purified CBD in patients with Dravet (DS) and Lennox-Gastaut syndrome (LGS). The study design was an open, prospective, multicenter expanded access program (EAP).

Alternatives to valproate in girls and women of childbearing potential with Idiopathic Generalized Epilepsies: state of the art and guidance for the clinician proposed by the Epilepsy and Gender Commission of the Italian League Against Epilepsy (LICE).

Following recent European Medication Agency restrictions on valproate (VPA) use in girls and women of childbearing potential (WOCP), the Commission on Epilepsy and Gender of the Italian League against Epilepsy integrated current literature and legislative data in order to provide clinicians with guidance on antiseizure medication (ASM) prescription for Idiopathic Generalized Epilepsies (IGEs) in this population, avoiding VPA. We reviewed the updated literature on ASMs and examined the teratogenicity of those showing efficacy in IGEs. For all relevant ASMs, we considered the indications for use and the pregnancy and contraception-related recommendations given in the Italian Summary of Product Characteristics (SmPC) and on the websites of the European Medicines Agency (EMA) and other European Union (EU) countries' regulatory agencies.

Practical use of pharmaceutically purified oral cannabidiol in Dravet syndrome and Lennox-Gastaut syndrome.

Introduction: Pharmaceutically purified oral cannabidiol (CBD) has been recently approved by the US Food and Drug Administration and European Medicines Agency as treatment of seizures associated with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS), which are severe and difficult-to-treat developmental and epileptic encephalopathies with onset in early childhood.

Areas Covered: This review will critically review the pharmacokinetic properties of CBD, the interactions with antiseizure and non-antiseizure medications, and the main tolerability and safety issues to provide guidance for its use in everyday practice.

Expert Opinion: CBD is metabolized in the liver and can influence the activity of enzymes involved in drug metabolism.

High level of sperm competition may increase transfer of accessory gland products carried by the love dart of land snails.

Postcopulatory adaptations that increase reproductive success compared to rivals, like the transfer of accessory gland products that promote paternity, are common when sperm competition occurs among males. In land snails, the dart shooting behavior and its adaptive significance, in promoting individual fitness through enhanced paternity of the successful dart shooter, have been considered such an adaptation. The fitness result gained is mediated by the transfer of mucus components on the love dart capable of altering the physiology of the receiver's reproductive tract.

Ejaculates are not used as nuptial gifts in simultaneously hermaphroditic snails.

Promoted by sexual selection, males usually adopt different ways to increase their fertilization chances. In many insect taxa males donate nuptial gifts, together with sperm, which represent a valuable additional nutrient source that females can use to provision eggs. This has also been suggested to occur in simultaneous hermaphrodites, organisms with both sex functions.

Hidden female physiological resistance to male accessory gland substances in a simultaneous hermaphrodite.

To increase fertilization chances compared with rivals, males are favoured to transfer accessory gland proteins to females during mating. These substances, by influencing female physiology, cause alteration of her sperm usage and remating rate. Simultaneously hermaphroditic land snails with love-darts are a case in point.

On the effect specificity of accessory gland products transferred by the love-dart of land snails.

Background: Sexual selection favours the evolution of male bioactive substances transferred during mating to enhance male reproductive success by affecting female physiology. These effects are mainly well documented for separate-sexed species. In simultaneous hermaphrodites, one of the most peculiar examples of transfer of such substances is via stabbing a so-called love-dart in land snails.

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients.

Methods: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients.

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?

Background: Hypochondroplasia is a rare skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, and limited extension of the elbow caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that plays a role in controlling nervous system development. Hypochondroplasia with FGFR3 mutation associated with bilateral medial temporal lobe anomalies and focal epilepsy was previously reported in several patients.

Patient: We report clinical, electroclinical, and neuroradiological findings of one patient affected by hypochondroplasia.

Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patients.

Background And Objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a tissue-limited mosaic supernumerary isochromosome 12p. Typical facial dysmorphisms, pigmentary abnormalities, and some major malformations are frequently present. Neurological manifestations include mental retardation, hypotonia, and seizures.

Seizures and EEG pattern in Kabuki syndrome.

Purpose: Kabuki syndrome (KS) is a rare dysmorphogenic disorder that is characterized by multiple congenital abnormalities with central nervous system involvement. The diagnosis is clinical and a variable degree of mental retardation is always present. Epilepsy is frequently reported, but a typical electroclinical pattern has not been described.

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.

Background: Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile epileptic encephalopathy.

Ictal impending danger--"sixth sense seizures"--in patients with benign focal epileptic seizures of adolescence.

Purpose: We describe nine consecutive patients with diagnosis of benign focal epileptic seizures of adolescence (BFSA), who experienced an ictal sensation of impending danger.

Materials And Methods: We collected nine BFSA patients after a comprehensive clinical and laboratory investigation, video-EEG analysis and neuroimaging study.

Results: All patients displayed a distinct electro-clinical pattern of seizures characterized by a peculiar subjective feeling of impending danger coming from behind, followed by a coordinated behavior of "head-turning" toward the danger.

Impact of idiopathic epilepsy on mothers and fathers: strain, burden of care, worries and perception of vulnerability.

The purpose of the study was to examine the impact of idiopathic epilepsy on mothers and fathers in terms of strain, burden of care, worries and perception of vulnerability. Data were collected and analyzed shortly after the diagnosis (T0) and 12 months later (T1). The results indicated that at T0 parents of children with epilepsy showed higher levels of worries and perception of vulnerability than controls; mothers sustained a greater burden of care and exhibited higher levels of strain than fathers.