Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors more than 150 proteins to the cell surface. Pathogenic variants in several genes that participate in GPI biosynthesis cause inherited GPI deficiency (IGD) disorders. Here, the inventors reported that homozygous null alleles of PIGG, a gene involved in GPI modification, are responsible for the rare Emm-negative blood phenotype. Using a panel of K562 cells defective in both the GPI-transamidase and GPI remodeling pathways, they demonstrate that the Emm antigen, whose molecular basis has remained unknown for decades, is carried only by free GPI and that its epitope is composed of the second and third ethanolamine of the GPI backbone. Importantly, the inventors show that the decrease in Emm expression in several IGD patients is indicative of GPI defects. Overall, our findings establish Emm as a novel blood group system and have important implications for understanding the biological function of human free GPI.

Provided are a knockout mouse, a method for screening a substance for suppressing mesial temporal lobe epilepsy, and a method for selecting a technique for suppressing mesial temporal lobe epilepsy. A knockout mouse 30 or more days of age that has lost the function of the Girdin gene in at least the nervous tissues and exhibits the phenotypes of (1), (2), and (3) below. (1) hippocampal sclerosis should be present, (2) extrahippocampal brain damage should be limited, and (3) spontaneous epilepsy that can be said to be of hippocampal origin should be present.

Epileptic seizures are difficult to diagnose and are often difficult to distinguish from several conditions with similar presentations, and therefore, diagnosis of seizures is often a long, expensive, and unreliable process. This invention provides biomarkers for identifying seizures and epilepsy, assays for measuring and assessing biomarker concentration, predictive models based on biomarkers and computational systems for detecting, assessing and diagnosing phasic and tonic changes associated with seizures and epilepsy in all clinical and healthcare settings. Diagnostic and treatment methods, systems, kits, and predictive models provided herein, provide quantitative and/or qualitative assessment in order to allow patients to proceed immediately to diagnostic and/or treatment protocols, and assess therapeutic treatment effectiveness.

Provided herein is a method of diagnosing or prognosing an epilepsy or epilepsy-related disorder. Also provided herein is a method of treating an epilepsy or epilepsy-related disorder. Further provided are non-epileptic and epileptic neural stem cells and cell cultures.

Methods for determining the presence or amount of oxopiperidine in a biological sample using mass spectrometry. These methods may be used to efficiently and non-invasively diagnose pyridoxine dependent epilepsy (PDE) due to deficient a-aminoadipic-?-semialdehyde (?-AASA) dehydrogenase activity due to mutations in ALDH7A1, resulting in the accumulation of ?.sup.1-P6C, P6CH, and 6-Oxo-PIP in biological samples.

Methods involving analysis of pretreatment leukocyte expression profiles for prognostic assessment of seizure outcome following a treatment or medical procedure, such as stereotactic laser amygdalohippocampotomy (SLAH). In one aspect, RNA sequencing (RNA-Seq) on whole blood leukocyte samples is taken from a patient with intractable epilepsy prior to SLAH. Differential expression (DE) analysis revealed 24 significantly dysregulated genes (?2.0-fold change, p-value <0.05, and False Discovery Rate, FDR <0.05) useful in prognostic assessment.

Epileptic seizures are difficult to diagnose and are often difficult to distinguish from several conditions with similar presentations, and therefore, diagnosis of seizures is often a long, expensive, and unreliable process. This invention provides biomarkers for identifying seizures and epilepsy, assays for measuring and assessing biomarker concentration, predictive models based on biomarkers and computer systems for detecting, assessing and diagnosing phasic and tonic changes associated with seizures and epilepsy in all clinical and healthcare settings. Diagnostic methods, kits and predictive models provided herein provide quantitative and/or qualitative assessment in order to allow patients to proceed immediately to diagnostic and/or treatment protocols, and assess therapeutic treatment effectiveness.

The present invention relates novel slice culture systems which provide a quick, simple, and effective tool for investigating pathological changes associated with AD. Also provided are methods of diagnosing AD and identifying potentially therapeutic compounds.

The application relates to markers for seizures and epilepsy. Polypeptide expression panels or arrays are provided, comprising one or more probes capable of binding specific polypeptides in blood plasma or blood serum of a mammalian subject. Also provided are methods for detecting seizure, methods for predicting seizure, use of sICAM-5 in the treatment of seizure, methods for assessing the effectiveness of a treatment of seizure, and diagnostic kits.

Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH19) protein deficiency or altered PCDH19 protein function are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH19 deficiency or altered PCDH19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRNA are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.