Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a wide spectrum of clinical presentations and overlapping phenotypes hinders differential diagnosis and highlights the need for molecular investigations toward delineation of underlying mechanisms and final diagnosis.

Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the Gene in a Girl with Coffin-Siris Syndrome.

Introduction: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients.

Case Presentation: We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy.

Α case of seronegative autoimmune encephalitis associated with human herpesvirus-7 (HHV-7).

In the last 10 years, an increased number of patients presenting with acute encephalitis is being observed, a finding that is attributed to autoimmune mechanisms. Despite the fact that autoantibodies usually target the neuronal cell surface or synaptic proteins in the central nervous system (CNS), in many cases these remain undetectable, constituting a future diagnostic and therapeutic challenge. Human herpesvirus-7 (HHV-7) is proven to be a neurotropic virus, causing various neurological complications mostly in the adult population.

Novel Hemizygous Missense Variant of Spermine Synthase () Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.

Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus - reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscoliosis). We report a case of SRS with a hemizygous missense variant in the gene,c.

The challenges that parents of children with epilepsy face: A qualitative study.

Objective: This qualitative study explored the challenges that Greek parents/caregivers of children with controlled epilepsy (CwE) face regarding the disorder.

Methods: Interviews were conducted based on open-ended questions guided by a review of the literature. A total of 91 parents/caregivers were recruited by neurologists at the neurology clinics of two Athens public hospitals.

Teachers' knowledge about epilepsy in Greece: Information sources and attitudes towards children with epilepsy during school time.

Aim: The aim of this study was to explore the sources of information for the educators in Greek primary and secondary schools with regard to epilepsy, first aid to seizures, and pupils' health conditions.

Method: A semistructured anonymous 52-item questionnaire was sent to 100 public primary and secondary Greek schools from all districts. Two thousand thirty-seven teachers were approached; 446 questionnaires returned.

Long-term follow up of complete bladder exstrophy repair. A case report.

Objective: Bladder exstrophy is a congenital anomaly which is not always successfully managed by surgery. Major goals of surgical intervention in such cases are preservation of normal renal function, development of adequate bladder function and urinary continence and avoidance of future urinary tract infections. We present 5-year data on a patient who underwent complete repair of the bladder exstrophy.