Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic phenotype of distinctive facial stigmata, pronounced hypotonia, poor feeding, hepatic dysfunction, and ...

The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of recurrent ...

Dravet syndrome is an infantile epilepsy syndrome with intractable pleomorphic seizures, cognitive impairment, and a number of comorbidities including ataxia/gait abnormalities and behavioral issues. Antiseizure medications are only partially effective in controlling seizures. Secondary to the intractable epilepsy, patients are often on multiple antiseizure medications with significant accumulative neurotoxic side ...

Some papers reported the development of adverse drug reactions in patients with Down's syndrome during the treatment with antiepileptic drugs. However, at this time, no data have been published concerning the development of tremor in patients with Down's syndrome treated with sodium valproate. We report a 17-year-old man with epilepsy ...

By combining electroencephalography (EEG) with functional magnetic resonance imaging (fMRI) it is possible to describe blood oxygenation level-dependent (BOLD) signal changes related to EEG patterns. This way, EEG-pattern-associated networks of hemodynamic changes can be detected anywhere in the brain with good spatial resolution. This review summarizes EEG-fMRI studies that have ...

BACKGROUND: Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding the alpha-subunit of the voltage-gated sodium channel Nav1.1. Disease modeling using patient-derived induced pluripotent stem cells (iPSCs) can be a powerful tool to reproduce this syndrome's human ...

Rett syndrome, a neurogenetic disorder predominantly affecting females, has many characteristic features including psychomotor retardation, impaired language development, hand stereotypies, gait dysfunction, and acquired microcephaly. Although each of these features undoubtedly contributes to the morbidity of this neurologic disorder, epilepsy is perhaps one of the most well-described and problematic, affecting ...

Posterior reversible encephalopathy syndrome is a recently described cliniconeuroradiological syndrome reported in children with several predisposing conditions such as transplantation, autoimmune, hematological, infectious, renal, and neoplastic diseases or administration of chemotherapeutic immunosuppressive drugs. Seizures are one of the most frequent manifestations of posterior reversible encephalopathy syndrome; status epilepticus has been ...

Rufinamide is a novel anticonvulsant medication approved by the US Food and Drug Administration (FDA) in 2008 for the treatment of seizures associated with Lennox-Gastaut syndrome in patients 4 years of age and older, based upon clinical trials demonstrating clinical efficacy and tolerability. Rufinamide is especially effective for tonic-atonic seizures ...

OBJECTIVES: West syndrome is an epileptic encephalopathy starting in infancy with almost continuous interictal epileptic activity, so-called hypsarrhythmia pattern, and therefore is an interesting model for investigating the effect of interictal epileptic activity on autonomic function. It is known that autonomic dysfunction contributes to morbidity and mortality in epilepsy. Our ...

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity not yet understood, that is present with transient neurologic symptoms and particular radiological findings. The most common imaging pattern in PRES is the presence of edema in the white matter of the posterior portions of both cerebral hemispheres. The cause of ...

Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment, and mixed motor abnormalities including spasticity, ataxia, and dystonia. The clinical condition is caused by impaired glucose transport across the blood brain barrier. The past 5 years have seen ...

Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or mutation of the maternally inherited 15q11.2-13.1 region, paternal uniparental disomy of chromosome 15, or an imprinting error. Epilepsy is common and may present with multiple ...

Primary antiphospholipid syndrome (APS) is an autoimmune disease defined by vascular thrombosis, pregnancy complications, and persistent antiphospholipid antibodies. Neurological manifestations include stroke, seizures, and chorea among others. Seizures are often precipitated by an acute ischemic event, but occasionally, structural abnormalities are absent. We present a 61-year-old man who developed partial ...

PURPOSE: To investigate whether using transcranial magnetic stimulation (TMS) to derive if measures of cortical excitability changes can distinguish between various adolescent/adult-onset generalized epilepsy syndromes at different phases of the disorder. METHODS: One hundred thirty-seven patients with adolescent/adult-onset generalized epilepsy divided into juvenile myoclonic epilepsy, juvenile absence epilepsy, and generalized ...

Generalised epilepsy and cognitive deterioration were recently described in three children following human herpesvirus 6 (HHV6)-associated post-transplant acute limbic encephalitis (PALE). Magnetic resonance imaging (MRI) showed bilateral signal change and/or atrophy in the medial temporal structures and there was no evidence of an ongoing viral or immune-mediated process. We report ...

Gastaut type idiopathic childhood occipital epilepsy is an uncommon epileptic syndrome characterised by frequent seizures, most commonly presenting as elementary visual hallucinations or blindness. Other occipital (non-visual) symptoms may also occur. Interictal EEG typically shows occipital paroxysms, often with fixation-off sensitivity. Ictal EEG is usually characterised by interruption by paroxysms ...

We evaluated the efficacy and tolerability of rufinamide adjunctive therapy in children with refractory generalised epilepsy. The study cohort consisted of 20 patients with Lennox-Gastaut syndrome, 5 with Dravet syndrome, and 28 with unclassified refractory generalised epilepsy. Patients with more than 50% seizure reduction at three and six months were ...

Dravet syndrome is an epileptic encephalopathy characterized by multiple types of seizures. We report the first case of musicogenic reflex seizures in a 7-year-old male with a mutation in the SCN1A gene causing Dravet syndrome. Reflex seizures have been reported in patients with Dravet syndrome provoked by body temperature elevation, ...

Mowat-Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene rarely diagnosed prenatally and with little fetal description reported. It is mainly characterized by moderate-to-severe intellectual disability, epilepsy, facial dysmorphism and various malformations including Hirschsprung disease and corpus callosum anomalies. Here we report ...

PURPOSE: Febrile seizures (FS) are the most common seizure syndrome. A strong genetic component has been well established through family and twin studies; however, such studies have not examined the genetics of different FS types (simple, complex, febrile status epilepticus) and sub-syndromes (true FS, febrile seizures plus (FS+), 'FS with ...

OBJECTIVE: To use family studies to investigate the clinical genetics of photosensitivity to understand the interrelationship of different photosensitive epilepsy syndromes. METHODS: Twenty-nine families were recruited in which at least 2 members had idiopathic epilepsy and either clinical or electrical photosensitivity on EEG studies. We performed electroclinical analysis of these ...

Purpose: We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. Subjects: Subjects were prospectively recruited from children with epilepsy who satisfied the following criteria and underwent ...

Few data are available about the difference between epilepsy in pediatric mitochondrial disorders (MIDs) and adult MIDs. This review focuses on the differences between pediatric and adult mitochondrial epilepsy with regard to seizure type, seizure frequency, and underlying MID. A literature search via Pubmed using the keywords 'mitochondrial', 'epilepsy', 'seizures', ...

OPINION STATEMENT: Lennox-Gastaut syndrome (LGS) is one of the most difficult epilepsy syndromes to treat, and many children are refractory to standard treatment regimens. Valproic acid, topiramate, and lamotrigine are considered first-line therapies. Newer agents, including clobazam and rufinamide, are promising additions to the current treatment options. The ketogenic diet ...

The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via ...

Dr. Theodore Rasmussen was a Canadian neurosurgeon, neurologist, and neuropathologist who primarily specialized in the treatment and histopathology of epilepsy. In addition to his eponym, "Rasmussen syndrome", a chronic form of encephalitis accompanied by epilepsy, his contributions included the refinement of neurosurgical techniques, thoroughly cataloguing outcomes following surgery for epilepsy, ...

Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, including patients with early myoclonic encephalopathy (EME), Ohtahara syndrome, West syndrome, nonsyndromic ...

Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seizures in infancy. A Kcnj10 knockout mouse shows postnatal mortality and ...

INTRODUCTION: Schinzel-Giedion syndrome (SGS) is a rare multiple congenital malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. Most individuals affected by SGS die in early childhood mainly because of progressive neurodegeneration and respiratory failure. The causative gene of SGS, SETBP1, was ...

PURPOSE: Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy with complex etiology. To explore possible genetic predispositions and causes of LGS, we have searched for copy number variants (CNVs). METHODS: We studied 21 patients with LGS or LGS-like epilepsy for CNVs using whole-genome array comparative genomic hybridization (aCGH). KEY FINDINGS: ...

Febrile infection-related epilepsy syndrome (FIRES) is a catastrophic and usually refractory epilepsy syndrome that occurs after a febrile illness in previously normal children. The pathogenesis of the syndrome is unknown, and the diagnosis is typically made by exclusion after an exhaustive negative workup for central nervous system infections and autoimmune ...

Seizures are a frequent complication associated with several neurogenetic disorders. Antiepileptic medications remain the mainstay of treatment in these patients. We summarized the available data associated with various antiepileptic therapies used to treat patients with neurogenetic disorders who experienced recurrent seizures. A MEDLINE search was conducted to identify articles and ...

Epileptic encephalopathy is defined as a condition where the epileptic activity itself may contribute to the severe neurological and cognitive impairment seen, over and above that which would be expected from the underlying pathology alone. The epilepsy syndromes at high risk of this are a disparate group of conditions characterized ...

Williams-Beuren syndrome is a genetic disorder rarely associated with seizures. The few described cases of Williams-Beuren syndrome and epilepsy have primarily involved infantile spasms and deletions extending beyond the common deletion region for this disorder. We present the case of a 5-week-old child with ictal apneas and typical Williams-Beuren syndrome ...

BACKGROUND: Randomized controlled trials (RCTs) in refractory paediatric epilepsy usually involve the two main types of epilepsy shared by children and adults, focal epilepsy and Lennox-Gastaut syndrome (LGS). Most other epilepsy syndromes, specifically paediatric, are excluded from drug development. In order to identify among them the candidate(s) for dedicated RCTs ...

Background: Partial seizures often develop during the clinical course of infantile spasms. Herein, we report a boy with cryptogenic West syndrome, who developed partial seizures that we suspected were induced by the ACTH therapy. Subject: The patient developed cryptogenic West syndrome at six months of age and ACTH therapy was ...

Fragile X syndrome, a common cause of intellectual disability and autism, is thought to occur due to abnormal regulation of neuronal protein synthesis. A study by Osterweil et al. (2013), in this issue, demonstrates that the HMG-CoA reductase inhibitor lovastatin can normalize protein synthesis and also reduce audiogenic seizures in ...

We report a six-year-old girl with Cardio-facio-cutaneous (CFC) syndrome who developed acute encephalopathy after the recurrence of status epilepticus. While epileptic encephalopathy and severe epilepsy have been mentioned as frequent complications of the CFC syndrome, no previous reports have shown a case of the CFC syndrome complicated with acute encephalopathy. ...

Idiopathic photosensitive occipital lobe epilepsy is a reflex, age- and localization-related syndrome. We describe the clinical and electroencephalographic features, therapy, and outcome of 16 children/adolescents with this syndrome. The cohort included 2 sets of siblings and 7 patients with other first- or second-degree relatives with a seizure history. All patients ...

Abstract Congenital hypoparathyroidism caused by velo-cardio-facial syndrome (VCFS) typically presents with hypocalcemia in the neonatal period associated with other characteristic findings. We report the case of an 8-year-old boy presenting a hypocalcemic seizure (ionized calcium, 0.65 mM); he had a history of velopharyngeal insufficiency and late development with language impairment; ...

Transient amnesic syndromes are striking clinical phenomena that are commonly encountered by physicians in acute medical settings. Diagnosis of such syndromes can be challenging, and their causes have been debated for over 50 years. Critical clinical distinctions, such as between transient global amnesia (TGA) and transient epileptic amnesia (TEA), as ...

The benign occipital epilepsies of childhood include Panayiotopoulos and Gastaut syndromes; a third syndrome, idiopathic photosensitive occipital epilepsy may also begin in childhood or adolescence. We describe siblings with occipital epilepsy characterized by refractory, frequent, brief visual seizures and normal magnetic resonance imaging (MRI). Electroencephalography (EEG) with functional MRI (fMRI) ...

Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with ...

Limbic encephalitis is a syndrome characterised by irritability, depression, sleeping disturbance, convulsion, hallucination and short-period memory loss that is commonly associated with a malignancy even if there is no evidence of it by the time of presentation. Most reported cases of limbic encephalitis as a paraneoplastic syndrome are associated with ...

Among nonsymptomatic epilepsies exhibiting several types of generalized seizures in children two syndromes were progressively identified: epilepsy with myoclonic-astatic seizures (MAE) and nonsymptomatic Lennox-Gastaut syndrome (LGS). Various approaches based on etiology, electroclinical semiology, and mathematical analysis have progressively helped to distinguish these two conditions. Both conditions preferentially affect boys. The ...

Stevens-Johnson syndrome (SJS) is a rare but life-threatening skin reaction disease and carbamazepine is one of its most common causes. We report a case of SJS secondary to carbamazepine in a patient with previous pruritus due to carbamazepine which was given for treatment of trigeminal neuralgia. We would like to ...

Epidermal nevus syndrome (ENS) is an inclusive term for a heterogeneous group of congenital disorders characterized by the presence of epidermal nevi associated with systemic involvement. These disorders, as are all primary neurocutaneous syndromes, are neurocristopathies. The epidermal nevi that follow the lines of Blaschko and most systemic anomalies in ...

Ketogenic diet (KD) was usually tried as a last resort in the treatment of intractable epilepsy after failure of many antiepileptics and even epilepsy surgery. Glucose transporter-1 deficiency and pyruvate dehydrogenase deficiency must be treated with KD as the first choice because of inborn errors of glucose metabolism. Infantile spasms, ...

Fahr syndrome (FS) refers to basal ganglia calcification that is associated with many neurological and psychiatric abnormalities and appears as secondary to other diseases. We described a case of FS patient who was admitted in the Department of Neurology of "Prof. Dr. Nicolae Oblu" Clinical Emergency Hospital, Iassy, Romania, with ...