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OBJECTIVE We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). METHODS The IGEs are common, heritable epilepsies that usually follow complex inheritance; currently little is known about their genetic architecture. Previously considered rare, GLUT1 deficiency, due to mutations in SLC2A1, leads(More)
Relatively little is known about the neurobiological basis of speech disorders although genetic determinants are increasingly recognized. The first gene for primary speech disorder was FOXP2, identified in a large, informative family with verbal and oral dyspraxia. Subsequently, many de novo and familial cases with a severe speech disorder associated with(More)
OBJECTIVE To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency. DESIGN Genetic analysis. SETTING Ambulatory and hospitalized care. PATIENTS Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent(More)
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic electroencephalogram (EEG) pattern and developmental regression particularly affecting language. Rare pathogenic deletions that include GRIN2A have been implicated in neurodevelopmental disorders. We sought to delineate the(More)
OBJECTIVE Two unrelated families were ascertained in which sisters had infantile onset of epilepsy and developmental delay. Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR). Despite both sister pairs having a PCDH19 mutation, neither parent in each family was a heterozygous carrier of the(More)
A low-power all-digital symbol timing recovery circuit for digital PSK transmission systems is implemented in a 0.35-/spl mu/m silicon on insulator (SOI) technology. The symbol timing circuit is designed for a wide range of bit rates (0.1-100 kbps) and robust against fast and large Doppler shift or frequency error on the input signal. The system is(More)
Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Zn(2+)) metabolism has previously been implicated in FS, whether or not variation in proteins essential for Zn(2+) homeostasis contributes to susceptibility is unknown. Synaptic Zn(2+) is co-released with glutamate and modulates(More)
discovered in 2.6 % of our controls (n = 4/156). the p.A75t variant was only identified in 0.2 % of the cohort (n = 1/494) and was not found in controls (n = 0/138). Although this variant is predicted 'probably damag-ing' (score = 0.977) to the NIPA2 protein by PolyPhen-2 it has a low Gran-tham score of 58 and is present in 0.2 % of the 6,500 individuals on(More)
AIM To show that atypical multifocal Dravet syndrome is a recognizable, electroclinical syndrome associated with sodium channel gene (SCN1A) mutations that readily escapes diagnosis owing to later cognitive decline and tonic seizures. METHOD Eight patients underwent electroclinical characterization. SCN1A was sequenced and copy number variations sought by(More)