Nocturnal Frontal Lobe Epilepsy (ENFL): Symptoms, Diagnosis and Treatment

Asymptomatic

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]
Malaise

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]
Weakness

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]
Progressive Mental Retardation

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]

Yawning

[…] 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]

Bruxism

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]

Myopathy

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]
Short Arm

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]

Facial Grimacing

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]

Withdrawn

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]
Head Banging

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]

Onset in Infancy or Childhood

[…] 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]

Meningism

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]

Symptoma