Page 176 - MEGIN Book Of Abstracts - 2023

lography evaluation. Advanced investigations such as Neurology, Xuanwu Hosptial, Captial Medical University, Bei-
positron emission tomography (PET), single-photon jing, 100053, China; Beijing Key Laboratory of Neuromodula-
emission computed tomography (SPECT), and magne- tion, Beijing, 100053, China. Electronic address: gaolehong@
toencephalography (MEG) may be required in selected sina.com; Department of Neurology, Xuanwu Hosptial,
cases especially when brain MRI is normal, and further Captial Medical University, Beijing, 100053, China; National
evidence for anatomo-electro-clinical concordance is Clinical Research Center for Geriatric Diseases, Beijing,
necessary to refine candidacy for surgery and surgi- 100053, China. Electronic address: cdongwang01@xwhosp.
cal strategy. Some children may also need functional org; Department of Neurology, Xuanwu Hosptial, Captial
MRI to map eloquent regions of interest such as motor, Medical University, Beijing, 100053, China; Beijing Key Labora-
sensory, and language functions to avoid unacceptable tory of Neuromodulation, Beijing, 100053, China. Electronic
neurological deficits after surgery. Selected children address: mdwangyp@sina.cn
may need invasive long-term electroencephalographic
monitoring using stereotactically implanted intracrani- OBJECTIVES Two configurations of TTTTA/TTTCA
al depth electrodes or subdural grids. Surgical options expansion in SAMD12 have been identified in familial
include resective surgeries (lesionectomy, lobectomy, cortical myoclonic tremor with epilepsy type 1 (FC-
multilobar resections) and disconnective surgeries MTE1). This study investigated the clinical and neuro-
(corpus callosotomy, etc.) with the potential to obtain physiological features of FCMTE1 and their association
seizure freedom. Other surgical procedures, typically with TTTTA/TTTCA expansion patterns.
considered to be palliative are neuromodulation [deep
brain stimulation (DBS), vagal nerve stimulation (VNS), METHODS In total, 76 patients from 20 Chinese pedi-
and responsive neural stimulation (RNS)]. DBS and grees were enrolled. Genetic (TTTTA/TTTCA configura-
RNS are currently not approved in children. Pediatric tion), clinical (e.g., onset, medication, prognosis, and
DRE should be evaluated early considering the risk anticipation) and neurophysiological examination (e.g.,
of epileptic encephalopathy and negative impact on electroencephalogram and magnetoencephalography)
cognition. data were evaluated, and associations between these
parameters were analyzed.
Keywords: Children, Drug-resistant epilepsy, Epilepsy
surgery, Pre-surgical workup RESULTS All patients carried the TTTTA/TTTCA expan-
sion mutation, 19 displayed the (TTTTA)exp(TTTCA)exp
Indian journal of pediatrics (2021), Vol. 88, No. 10 (type I) configuration and 1 displayed the (TTTTA)exp
(33740232) (7 citations) (TTTCA)exp(TTTTA)exp (type II) configuration. All pa-
tients manifested as progressive tremor, but symptoms
of patients carrying type II expansion were more se-
Comprehensive genetic, clinical and vere. The onset of tremor but not generalized tonic and
electrophysiological studies of familial cortical clonic seizures displayed clinical anticipation between
myoclonic tremor with epilepsy 1 highlight the role generations of 7 pedigrees, but the pedigree carrying
of gene configurations (2021) the type II mutation did not show anticipation. Nano-
pore sequencing showed that the repeats expanded
Pan, Sipei; Li, Xuying; Li, Liping; Lin, Hua; Wang, Dequan; during maternal/offspring transmission (pedigree #7)
Zhang, Xiating; Zhao, Xin; Ye, Jing; Huang, Zhaoyang; but shrank during paternal/offspring transmission
Lin, Yicong; Duan, Yiran; Ma, Rui; Gao, Lehong; Wang, (pedigree #9). Magnetoencephalographic dipoles were
Chaodong; Wang, Yuping localized in the right frontal lobe near the central sulcus
in 4 patients carrying the type I mutation and on the
Department of Neurology, Xuanwu Hosptial, Captial Medical left side in one patient carrying the type II mutation.
University, Beijing, 100053, China; Beijing Key Laboratory of
Neuromodulation, Beijing, 100053, China; Department of

 ontents  Index 155
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