The current classification of epileptic seizures, epilepsies, and epilepsy syndromes is considered first. The presence of progressive neurological signs is a cause for concern and suggests a degenerative disorder. Investigations may include biochemical investigation, EEG, video telemetry, cranial imaging, and DNA diagnostics. Affected males with fragile-X have an increased frequency of epilepsy. Estimates of its prevalence vary from 28% to 45%. Seizures may be generalized tonic-clonic, partial with or without secondary generalization, or of multiple types. Advances in human molecular genetic techniques have allowed positional cloning strategies to be applied to identification of the defective genes and their protein products. A number of studies have been performed on the incidence of epilepsy in the offspring of epileptic parents, and provide an empiric risk of 1. 7%-7. 3%, with a median of 4. 2% for all types of seizures, including febrile convulsions and single seizures.

Hemimegalencephaly often presents in early infancy with either cerebral hemisphere affected, and occurs in every ethnic group and both genders. Hemimegalencephaly may be the primary etiology of several epilepsy syndromes. In Ohtahara syndrome, tonic seizures, frequently asymmetric, present early in association with a burst suppression pattern. West syndrome is another frequently encountered epilepsy type with infantile spasms present in up to 50% of patients with hemimegalencephaly. The diagnosis of hemimegalencephaly is made definitively by magnetic resonance imaging (MRI) examination; however, early detection using postnatal cranial ultrasound and computed tomography (CT) is possible. Brain single photon emission computed tomography (SPECT) imaging often reveals hypoperfusion of the malformed hemisphere in the interictal state and hyperperfusion during the ictus. The choice of antiepileptic medication rests largely on the seizure type present in each case. Anatomic or functional hemispherectomy have been employed in patients with hemimegalencephaly and both show similar rates of postoperative seizure-freedom.

This chapter deals with epilepsy in girls and young women, and reviews the common epilepsy syndromes, treatment challenges, and educational and social concerns. Some seizure disorders can be grouped together as an epilepsy syndrome. The epileptic syndromes that present in adolescence are juvenile absence epilepsy, juvenile myoclonic epilepsy (JME), and generalized tonic-clonic seizures on awakening. Decisions about treating seizures in children and adolescents involve considerations of when to treat, how long to treat, selection of the best medications to use, supplementation with vitamins, and compliance with the treatment plan. Knowledge of possible drug interactions is important, for the physician, the caretakers, and the girl with epilepsy. Some antiepileptic drugs (AEDs), for example phenytoin, alter the concentration of vitamin D in the body. Children and adolescents who have normal cognitive development include those with febrile seizures, childhood absence epilepsy, benign focal epilepsy (rolandic epilepsy) and JME.