This mutation segregated with the disorder in all 11 affected members, 2 obligate carriers (subjects I-3 and II-2), and 1 asymptomatic child (subject III-2). [jamanetwork.com]

Seizures generally started with a sudden awakening with malaise and suffocation, followed by motor manifestations, with dystonic posturing of limbs and myoclonic jerks. [jamanetwork.com]

However, the results need to be confirmed in a larger group of subjects and controlled in all the subjects with video-PSG. 10 However, the weakness of the study is that the clinical features of the episodes are often neither completely nor well described [touchneurology.com]

The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8. Proc. natn. Acad. Sci. U.S.A. 91, 7267–7270 (1994). 8 Greenberg, D.A. et al. [nature.com]

[…] of NFLE seizures. [9] Inconclusive EEG patterns in NFLE seizures have been noted in other series, likely related to the insensitivity of scalp EEG for detecting frontal lobe seizures. [6] Clinical features which strongly favor a parasomnia include: Yawning [jfmpc.com]

The result is that normal motor behaviours or periodic small movements (PLMS, bruxism, sleep-talking), whether or not accompanied by ictal discharges, are indistinguishable. 18,19 The frequency and stereotypy of the attacks during sleep – often considered [touchneurology.com]

The diagnoses, multiple in 17 patients, were made on clinical grounds without polysomnography, and included sleep-talking in 24 patients, sleep-walking in 21, primary enuresis in seven, sleep-terror in five, bruxism in four, head banging in one and REM-sleep [academic.oup.com]

This work was supported by the Association Française contre les Myopathies, Paris, France, and the Health Department of the Basque Government, Vitoria, Basque Country, Spain (1996-1997). Reprints: Amets Sáenz, BSc, Experimental Unit, Hospital Ntra. [jamanetwork.com]

The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8. Proc. natn. Acad. Sci. U.S.A. 91, 7267–7270 (1994). 8 Greenberg, D.A. et al. [nature.com]

Finally, in only 15% of the episodes was the first movement opening of the eyes, then moving the lower limbs (4%) and the head (5%); in 4%, seizures began with pelvic movements; in 2% of the cases, patients had a facial grimace or swallowed (2%); in only [academic.oup.com]

In five cases, carbamazepine was withdrawn because it was ineffective, and phenytoin (in two) or clobazam (in three, in one case associated with valproic acid) were instituted, without any significant efficacy. [academic.oup.com]

Personal history Thirty-four patients (34%) presented in their personal history, mostly in infancy, sleep disorders resembling sleep-talking, pavor nocturnus, enuresis, head banging and sleep-walking. [academic.oup.com]

[…] during infancy or childhood with persistence in adulthood, family history of similar NFL seizures and nocturnal episodes simulating non-rapid eye movement (NREM) parasomnias (sleep terrors or sleepwalking), general absence of morphological substrates [touchneurology.com]

No history of head trauma, meningitis, encephalitis, or any other neurologic condition that was likely to have caused epilepsy was found. The pregnancy, delivery, and postnatal period had been uneventful in all patients. [jamanetwork.com]

0 25 (49%) 8 (20%) 33 Interictal sleep EEG Normal 7 (78%) 18 (35%) 26 (65%) 51 Focal non-specific abnormalities 0 0 4 (10%) 4 Focal epileptic abnormalities 2 (22%) 33 (65%) 10 (25%) 45 Ictal EEG Normal 4 (44%) 17 (33%) 23 (58%) 44 Theta activity 4 (44% [academic.oup.com]

14%) and included frontal vascular malformation (two cases); ischaemic lesions (four cases: three frontal and one occipital); frontobasal arachnoid cyst (three cases); frontal cortical dysplasia (three cases); temporal atrophy (one case); and frontal gliosis [academic.oup.com]